La maladie de Parkinson en France (serveur d'exploration)

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A systematic screening to identify de novo mutations causing sporadic early-onset Parkinson's disease

Identifieur interne : 000067 ( Pmc/Corpus ); précédent : 000066; suivant : 000068

A systematic screening to identify de novo mutations causing sporadic early-onset Parkinson's disease

Auteurs : Celia Kun-Rodrigues ; Christos Ganos ; Rita Guerreiro ; Susanne A. Schneider ; Claudia Schulte ; Suzanne Lesage ; Lee Darwent ; Peter Holmans ; Andrew Singleton ; Kailash Bhatia ; Jose Bras

Source :

RBID : PMC:4634375

Abstract

Despite the many advances in our understanding of the genetic basis of Mendelian forms of Parkinson's disease (PD), a large number of early-onset cases still remain to be explained. Many of these cases, present with a form of disease that is identical to that underlined by genetic causes, but do not have mutations in any of the currently known disease-causing genes. Here, we hypothesized that de novo mutations may account for a proportion of these early-onset, sporadic cases. We performed exome sequencing in full parent–child trios where the proband presents with typical PD to unequivocally identify de novo mutations. This approach allows us to test all genes in the genome in an unbiased manner. We have identified and confirmed 20 coding de novo mutations in 21 trios. We have used publicly available population genetic data to compare variant frequencies and our independent in-house dataset of exome sequencing in PD (with over 1200 cases) to identify additional variants in the same genes. Of the genes identified to carry de novo mutations, PTEN, VAPB and ASNA1 are supported by various sources of data to be involved in PD. We show that these genes are reported to be within a protein–protein interaction network with PD genes and that they contain additional rare, case-specific, mutations in our independent cohort of PD cases. Our results support the involvement of these three genes in PD and suggest that testing for de novo mutations in sporadic disease may aid in the identification of novel disease-causing genes.


Url:
DOI: 10.1093/hmg/ddv376
PubMed: 26362251
PubMed Central: 4634375

Links to Exploration step

PMC:4634375

Le document en format XML

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<addr-line>Campus Kiel 24105</addr-line>
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<name sortKey="Bhatia, Kailash" sort="Bhatia, Kailash" uniqKey="Bhatia K" first="Kailash" last="Bhatia">Kailash Bhatia</name>
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<nlm:aff id="af3">
<addr-line>Sobell Department of Motor Neuroscience and Movement Disorders</addr-line>
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<institution>UCL Institute of Neurology, University College London</institution>
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<addr-line>London WC1N 3BG</addr-line>
,
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<name sortKey="Bras, Jose" sort="Bras, Jose" uniqKey="Bras J" first="Jose" last="Bras">Jose Bras</name>
<affiliation>
<nlm:aff id="af1">
<addr-line>Department of Molecular Neuroscience</addr-line>
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<institution>UCL Institute of Neurology</institution>
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<title level="j">Human Molecular Genetics</title>
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<p>Despite the many advances in our understanding of the genetic basis of Mendelian forms of Parkinson's disease (PD), a large number of early-onset cases still remain to be explained. Many of these cases, present with a form of disease that is identical to that underlined by genetic causes, but do not have mutations in any of the currently known disease-causing genes. Here, we hypothesized that
<italic>de novo</italic>
mutations may account for a proportion of these early-onset, sporadic cases. We performed exome sequencing in full parent–child trios where the proband presents with typical PD to unequivocally identify
<italic>de novo</italic>
mutations. This approach allows us to test all genes in the genome in an unbiased manner. We have identified and confirmed 20 coding
<italic>de novo</italic>
mutations in 21 trios. We have used publicly available population genetic data to compare variant frequencies and our independent in-house dataset of exome sequencing in PD (with over 1200 cases) to identify additional variants in the same genes. Of the genes identified to carry
<italic>de novo</italic>
mutations,
<italic>PTEN</italic>
,
<italic>VAPB</italic>
and
<italic>ASNA1</italic>
are supported by various sources of data to be involved in PD. We show that these genes are reported to be within a protein–protein interaction network with PD genes and that they contain additional rare, case-specific, mutations in our independent cohort of PD cases. Our results support the involvement of these three genes in PD and suggest that testing for
<italic>de novo</italic>
mutations in sporadic disease may aid in the identification of novel disease-causing genes.</p>
</div>
</front>
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</back>
</TEI>
<pmc article-type="research-article">
<pmc-dir>properties open_access</pmc-dir>
<front>
<journal-meta>
<journal-id journal-id-type="nlm-ta">Hum Mol Genet</journal-id>
<journal-id journal-id-type="iso-abbrev">Hum. Mol. Genet</journal-id>
<journal-id journal-id-type="publisher-id">hmg</journal-id>
<journal-id journal-id-type="hwp">hmg</journal-id>
<journal-title-group>
<journal-title>Human Molecular Genetics</journal-title>
</journal-title-group>
<issn pub-type="ppub">0964-6906</issn>
<issn pub-type="epub">1460-2083</issn>
<publisher>
<publisher-name>Oxford University Press</publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id pub-id-type="pmid">26362251</article-id>
<article-id pub-id-type="pmc">4634375</article-id>
<article-id pub-id-type="doi">10.1093/hmg/ddv376</article-id>
<article-id pub-id-type="publisher-id">ddv376</article-id>
<article-categories>
<subj-group subj-group-type="heading">
<subject>Articles</subject>
</subj-group>
</article-categories>
<title-group>
<article-title>A systematic screening to identify
<italic>de novo</italic>
mutations causing sporadic early-onset Parkinson's disease</article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname>Kun-Rodrigues</surname>
<given-names>Celia</given-names>
</name>
<xref ref-type="aff" rid="af1">1</xref>
<xref ref-type="author-notes" rid="AN1"></xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Ganos</surname>
<given-names>Christos</given-names>
</name>
<xref ref-type="aff" rid="af2">2</xref>
<xref ref-type="aff" rid="af3">3</xref>
<xref ref-type="author-notes" rid="AN1"></xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Guerreiro</surname>
<given-names>Rita</given-names>
</name>
<xref ref-type="aff" rid="af1">1</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Schneider</surname>
<given-names>Susanne A.</given-names>
</name>
<xref ref-type="aff" rid="af4">4</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Schulte</surname>
<given-names>Claudia</given-names>
</name>
<xref ref-type="aff" rid="af5">5</xref>
<xref ref-type="aff" rid="af6">6</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Lesage</surname>
<given-names>Suzanne</given-names>
</name>
<xref ref-type="aff" rid="af7">7</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Darwent</surname>
<given-names>Lee</given-names>
</name>
<xref ref-type="aff" rid="af1">1</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Holmans</surname>
<given-names>Peter</given-names>
</name>
<xref ref-type="aff" rid="af8">8</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Singleton</surname>
<given-names>Andrew</given-names>
</name>
<xref ref-type="aff" rid="af9">9</xref>
</contrib>
<contrib contrib-type="author">
<collab>International Parkinson's Disease Genomics Consortium (IPDGC)</collab>
<xref ref-type="author-notes" rid="AN2"></xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Bhatia</surname>
<given-names>Kailash</given-names>
</name>
<xref ref-type="aff" rid="af3">3</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Bras</surname>
<given-names>Jose</given-names>
</name>
<xref ref-type="aff" rid="af1">1</xref>
<xref ref-type="corresp" rid="cor1">*</xref>
</contrib>
<aff id="af1">
<label>1</label>
<addr-line>Department of Molecular Neuroscience</addr-line>
,
<institution>UCL Institute of Neurology</institution>
,
<addr-line>London WC1N 3AR</addr-line>
,
<country>UK</country>
,</aff>
<aff id="af2">
<label>2</label>
<addr-line>Department of Neurology</addr-line>
,
<institution>University Medical Center Hamburg-Eppendorf (UKE)</institution>
,
<addr-line>Hamburg 20246</addr-line>
,
<country>Germany</country>
,</aff>
<aff id="af3">
<label>3</label>
<addr-line>Sobell Department of Motor Neuroscience and Movement Disorders</addr-line>
,
<institution>UCL Institute of Neurology, University College London</institution>
,
<addr-line>London WC1N 3BG</addr-line>
,
<country>UK</country>
,</aff>
<aff id="af4">
<label>4</label>
<addr-line>Department of Neurology</addr-line>
,
<institution>University Hospital Schleswig Holstein</institution>
,
<addr-line>Campus Kiel 24105</addr-line>
,
<country>Germany</country>
,</aff>
<aff id="af5">
<label>5</label>
<institution>German Center for Neurodegenerative Diseases</institution>
,
<addr-line>Tübingen</addr-line>
,
<country>Germany</country>
,</aff>
<aff id="af6">
<label>6</label>
<addr-line>Department of Neurodegenerative Diseases</addr-line>
,
<institution>Hertie Institute for Clinical Brain Research, University of Tübingen</institution>
,
<addr-line>Tübingen 72076</addr-line>
,
<country>Germany</country>
,</aff>
<aff id="af7">
<label>7</label>
<addr-line>INSERM U M27</addr-line>
,
<institution>Pitié-Salpêtrière Hospital, Brain and Spinal Cord Institute (ICM)</institution>
,
<addr-line>Paris 75013</addr-line>
,
<country>France</country>
,</aff>
<aff id="af8">
<label>8</label>
<addr-line>Medical Research Council Centre for Neuropsychiatric Genetics and Genomics</addr-line>
,
<institution>Institute of Psychological Medicine and Clinical Neurosciences, Cardiff University</institution>
,
<addr-line>Cardiff CF24 4HQ</addr-line>
,
<country>UK</country>
and</aff>
<aff id="af9">
<label>9</label>
<addr-line>Laboratory of Neurogenetics</addr-line>
,
<institution>National Institutes on Aging, National Institutes of Health</institution>
,
<addr-line>Bethesda, MD 20892</addr-line>
,
<country>USA</country>
</aff>
</contrib-group>
<author-notes>
<corresp id="cor1">
<label>*</label>
To whom correspondence should be addressed at: Department of Molecular Neuroscience, Institute of Neurology, University College of London, 8-11 Queen Square, DRC, Box 16, London, WC1N 3AR, UK. Tel: +44 020 3448 3666; Email:
<email>j.bras@ucl.ac.uk</email>
</corresp>
<fn id="AN1" fn-type="con">
<label></label>
<p>The authors wish it to be known that, in their opinion, the first two authors should be regarded as joint First Authors.</p>
</fn>
<fn id="AN2" fn-type="con">
<label></label>
<p>A complete list of the IPDGC members is listed in the
<ext-link ext-link-type="uri" xlink:href="http://hmg.oxfordjournals.org/lookup/suppl/doi:10.1093/hmg/ddv376/-/DC1">Supplementary Material</ext-link>
.</p>
</fn>
</author-notes>
<pub-date pub-type="ppub">
<day>01</day>
<month>12</month>
<year>2015</year>
</pub-date>
<pub-date pub-type="epub">
<day>11</day>
<month>9</month>
<year>2015</year>
</pub-date>
<pub-date pub-type="pmc-release">
<day>11</day>
<month>9</month>
<year>2015</year>
</pub-date>
<pmc-comment> PMC Release delay is 0 months and 0 days and was based on the . </pmc-comment>
<volume>24</volume>
<issue>23</issue>
<fpage>6711</fpage>
<lpage>6720</lpage>
<history>
<date date-type="received">
<day>4</day>
<month>8</month>
<year>2015</year>
</date>
<date date-type="rev-recd">
<day>8</day>
<month>9</month>
<year>2015</year>
</date>
<date date-type="accepted">
<day>8</day>
<month>9</month>
<year>2015</year>
</date>
</history>
<permissions>
<copyright-statement>© The Author 2015. Published by Oxford University Press.</copyright-statement>
<copyright-year>2015</copyright-year>
<license license-type="creative-commons" xlink:href="http://creativecommons.org/licenses/by/4.0/">
<license-p>This is an Open Access article distributed under the terms of the Creative Commons Attribution License (
<ext-link ext-link-type="uri" xlink:href="http://creativecommons.org/licenses/by/4.0/">http://creativecommons.org/licenses/by/4.0/</ext-link>
), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited.</license-p>
</license>
</permissions>
<self-uri content-type="pdf" xlink:href="ddv376.pdf"></self-uri>
<abstract>
<p>Despite the many advances in our understanding of the genetic basis of Mendelian forms of Parkinson's disease (PD), a large number of early-onset cases still remain to be explained. Many of these cases, present with a form of disease that is identical to that underlined by genetic causes, but do not have mutations in any of the currently known disease-causing genes. Here, we hypothesized that
<italic>de novo</italic>
mutations may account for a proportion of these early-onset, sporadic cases. We performed exome sequencing in full parent–child trios where the proband presents with typical PD to unequivocally identify
<italic>de novo</italic>
mutations. This approach allows us to test all genes in the genome in an unbiased manner. We have identified and confirmed 20 coding
<italic>de novo</italic>
mutations in 21 trios. We have used publicly available population genetic data to compare variant frequencies and our independent in-house dataset of exome sequencing in PD (with over 1200 cases) to identify additional variants in the same genes. Of the genes identified to carry
<italic>de novo</italic>
mutations,
<italic>PTEN</italic>
,
<italic>VAPB</italic>
and
<italic>ASNA1</italic>
are supported by various sources of data to be involved in PD. We show that these genes are reported to be within a protein–protein interaction network with PD genes and that they contain additional rare, case-specific, mutations in our independent cohort of PD cases. Our results support the involvement of these three genes in PD and suggest that testing for
<italic>de novo</italic>
mutations in sporadic disease may aid in the identification of novel disease-causing genes.</p>
</abstract>
</article-meta>
</front>
<body>
<sec sec-type="intro" id="s1">
<title>Introduction</title>
<p>Although the detailed aetiology of Parkinson's disease (PD) remains largely unknown, data suggest the disease may be triggered through different mechanisms: protein inclusions accumulation, diminished mitochondrial activity, proteasomal/lysosomal dysfunction and impaired dopamine production (
<xref rid="DDV376C1" ref-type="bibr">1</xref>
). An increasing number of publications show a strong genetic component for PD. Studies in familial forms of PD have allowed for the identification of disease-causing mutations in several genes, causing either dominant or recessive forms of disease inheritance. Genome-wide association studies (GWAS) have also significantly contributed to a more comprehensive knowledge of the risk loci involved in PD (
<xref rid="DDV376C2" ref-type="bibr">2</xref>
). Despite these results, there is still a large number of sporadic, early-onset cases that carry no mutation in the known PD genes. These individuals have, in many cases, a form of disease that is indistinguishable from genetically linked disease.</p>
<p>
<italic>De novo</italic>
mutations have been commonly studied in neurodevelopmental disorders such as autism (
<xref rid="DDV376C3" ref-type="bibr">3</xref>
<xref rid="DDV376C5" ref-type="bibr">5</xref>
) and schizophrenia (
<xref rid="DDV376C6" ref-type="bibr">6</xref>
,
<xref rid="DDV376C7" ref-type="bibr">7</xref>
) with only a few examples in neurodegenerative diseases.
<italic>De novo</italic>
mutations in the
<italic>ATP1A3</italic>
gene have been found as the cause for rapid-onset dystonia parkinsonism (
<xref rid="DDV376C8" ref-type="bibr">8</xref>
), while Rosewich
<italic>et al.</italic>
(
<xref rid="DDV376C9" ref-type="bibr">9</xref>
) reported
<italic>de novo</italic>
mutations in this gene in alternating hemiplegia of childhood. De Carvalho Aguiar and colleagues (
<xref rid="DDV376C10" ref-type="bibr">10</xref>
) showed one
<italic>de novo</italic>
mutation in
<italic>TOR1A</italic>
in a primary torsion dystonia case. Two cases of static encephalopathy of childhood with neurodegeneration in adulthood showed mutations in
<italic>WDR45</italic>
(
<xref rid="DDV376C11" ref-type="bibr">11</xref>
). In all these cases, patients start to show symptoms during childhood or adolescence.</p>
<p>Recently studies have suggested the involvement of
<italic>de novo</italic>
mutations in other neurodegenerative diseases, such as in early-onset Alzheimer's disease (AD) (
<xref rid="DDV376C12" ref-type="bibr">12</xref>
,
<xref rid="DDV376C13" ref-type="bibr">13</xref>
) and amyotrophic lateral sclerosis (ALS) (
<xref rid="DDV376C14" ref-type="bibr">14</xref>
<xref rid="DDV376C17" ref-type="bibr">17</xref>
).</p>
<p>There is also preliminary evidence supporting the role of
<italic>de novo</italic>
mutations in PD: Puschmann and colleagues (
<xref rid="DDV376C18" ref-type="bibr">18</xref>
) reported on a presumably
<italic>de novo</italic>
A53T mutation in
<italic>SNCA</italic>
and non-mendelian multiplications of the gene (
<xref rid="DDV376C19" ref-type="bibr">19</xref>
,
<xref rid="DDV376C20" ref-type="bibr">20</xref>
) have also been shown. More recently, Hansen and collaborators (
<xref rid="DDV376C21" ref-type="bibr">21</xref>
) described two mutations in the
<italic>SLC6A3</italic>
gene (encoding the dopamine transporter, DAT1), one of which was presumed to be
<italic>de novo</italic>
. It should be noted however that in both the
<italic>SNCA</italic>
A53T and the
<italic>SLC6A3</italic>
cases, the authors were not able to positively confirm the presence of
<italic>de novo</italic>
mutations, given the absence of parental DNA samples.</p>
<p>Here, we hypothesize that a subset of early-onset PD cases, with no mutations in any of the known PD-causing genes, may be due to the occurrence of
<italic>de novo</italic>
mutations. We used whole-exome sequencing in full parent–child PD trios to unequivocally identify these events.</p>
</sec>
<sec sec-type="results" id="s2">
<title>Results</title>
<p>From the systematic analysis of the whole-exome sequencing data, 24 genes showed
<italic>de novo</italic>
mutations in the trios. We validated 20 of the 24 variants with Sanger sequencing methods (Table
<xref ref-type="table" rid="DDV376TB1">1</xref>
) comparing sequences from both parents with the proband (examples for the three genes of interest in Fig.
<xref ref-type="fig" rid="DDV376F1">1</xref>
). The four variants not validated were false positives from the exome sequencing. We have identified, on average, one
<italic>de novo</italic>
coding event per trio, which is in line with what would be expected for the human population (
<xref rid="DDV376C22" ref-type="bibr">22</xref>
) (Table
<xref ref-type="table" rid="DDV376TB2">2</xref>
). Only four of the variants identified have been previously described in population databases: the variants in
<italic>EPPK1</italic>
,
<italic>COL12A1</italic>
,
<italic>PEPD</italic>
and
<italic>SLC52A1</italic>
have low frequencies ranging from 0.00003 to 0.003 in Exome Aggregation Consortium (ExAC). All other variants are presumably novel as they are absent from tested databases. PD cases did not show any potential pathogenic mutations in the known PD genes—all variants identified in those genes were either frequent in the general population, present in the unaffected parents, located in not conserved residues or predicted to be benign by PolyPhen and SIFT (
<xref rid="DDV376C23" ref-type="bibr">23</xref>
,
<xref rid="DDV376C24" ref-type="bibr">24</xref>
).
<table-wrap id="DDV376TB1" orientation="portrait" position="float">
<label>Table 1.</label>
<caption>
<p>List of
<italic>de novo</italic>
variants identified in the PD trios</p>
</caption>
<table frame="hsides" rules="groups">
<colgroup span="1">
<col align="left" span="1"></col>
<col align="left" span="1"></col>
<col align="char" span="1"></col>
<col align="char" span="1"></col>
<col align="left" span="1"></col>
<col align="left" span="1"></col>
<col align="left" span="1"></col>
<col align="left" span="1"></col>
<col align="left" span="1"></col>
<col align="left" span="1"></col>
<col align="left" span="1"></col>
<col align="char" char="." span="1"></col>
<col align="left" span="1"></col>
<col align="char" char="." span="1"></col>
</colgroup>
<thead>
<tr>
<th align="left" rowspan="1" colspan="1">Trio</th>
<th align="left" rowspan="1" colspan="1">Gene</th>
<th align="left" rowspan="1" colspan="1">Chromosome</th>
<th align="left" rowspan="1" colspan="1">Position</th>
<th align="left" rowspan="1" colspan="1">Transcript</th>
<th align="left" rowspan="1" colspan="1">Codon change</th>
<th align="left" rowspan="1" colspan="1">Amino acid change</th>
<th align="left" rowspan="1" colspan="1">Reference SNP</th>
<th align="left" rowspan="1" colspan="1">SIFT prediction</th>
<th align="left" rowspan="1" colspan="1">Polyphen prediction</th>
<th align="left" rowspan="1" colspan="1">CADD phred score</th>
<th align="left" rowspan="1" colspan="1">ESP6500</th>
<th align="left" rowspan="1" colspan="1">1000 Genomes</th>
<th align="left" rowspan="1" colspan="1">ExAC</th>
</tr>
</thead>
<tbody>
<tr>
<td rowspan="1" colspan="1">1</td>
<td rowspan="1" colspan="1">COL12A1</td>
<td rowspan="1" colspan="1">6</td>
<td rowspan="1" colspan="1">75 887 555</td>
<td rowspan="1" colspan="1">NM_004370</td>
<td rowspan="1" colspan="1">cGa/cAa</td>
<td rowspan="1" colspan="1">R754Q</td>
<td rowspan="1" colspan="1">rs377480187</td>
<td rowspan="1" colspan="1">None</td>
<td rowspan="1" colspan="1">Probably_Damaging</td>
<td rowspan="1" colspan="1">32</td>
<td rowspan="1" colspan="1">0.000084</td>
<td rowspan="1" colspan="1">0</td>
<td rowspan="1" colspan="1">0.00003311</td>
</tr>
<tr>
<td rowspan="1" colspan="1"></td>
<td rowspan="1" colspan="1">RUNDC3A</td>
<td rowspan="1" colspan="1">17</td>
<td rowspan="1" colspan="1">42 390 571</td>
<td rowspan="1" colspan="1">NM_001144825</td>
<td rowspan="1" colspan="1">tGt/tTt</td>
<td rowspan="1" colspan="1">C108F</td>
<td rowspan="1" colspan="1"></td>
<td rowspan="1" colspan="1">Deleterious</td>
<td rowspan="1" colspan="1">Probably_Damaging</td>
<td rowspan="1" colspan="1">22.2</td>
<td rowspan="1" colspan="1">0</td>
<td rowspan="1" colspan="1">0</td>
<td rowspan="1" colspan="1">0</td>
</tr>
<tr>
<td rowspan="1" colspan="1"></td>
<td rowspan="1" colspan="1">VAPB</td>
<td rowspan="1" colspan="1">20</td>
<td rowspan="1" colspan="1">56 9932 80</td>
<td rowspan="1" colspan="1">NM_004738</td>
<td rowspan="1" colspan="1">gaTGTt/gat</td>
<td rowspan="1" colspan="1">ΔV25</td>
<td rowspan="1" colspan="1"></td>
<td rowspan="1" colspan="1">None</td>
<td rowspan="1" colspan="1">None</td>
<td rowspan="1" colspan="1">None</td>
<td rowspan="1" colspan="1">0</td>
<td rowspan="1" colspan="1">0</td>
<td rowspan="1" colspan="1">0</td>
</tr>
<tr>
<td rowspan="1" colspan="1">2</td>
<td rowspan="1" colspan="1">ANKRD13A</td>
<td rowspan="1" colspan="1">12</td>
<td rowspan="1" colspan="1">1 104 655 60</td>
<td rowspan="1" colspan="1">NM_033121</td>
<td rowspan="1" colspan="1">Ggt/Tgt</td>
<td rowspan="1" colspan="1">G312C</td>
<td rowspan="1" colspan="1"></td>
<td rowspan="1" colspan="1">Deleterious</td>
<td rowspan="1" colspan="1">Possibly_Damaging</td>
<td rowspan="1" colspan="1">22.8</td>
<td rowspan="1" colspan="1">0</td>
<td rowspan="1" colspan="1">0</td>
<td rowspan="1" colspan="1">0</td>
</tr>
<tr>
<td rowspan="1" colspan="1"></td>
<td rowspan="1" colspan="1">MKS1</td>
<td rowspan="1" colspan="1">17</td>
<td rowspan="1" colspan="1">56 293 486</td>
<td rowspan="1" colspan="1">NM_001165927</td>
<td rowspan="1" colspan="1">aCc/aTc</td>
<td rowspan="1" colspan="1">T117I</td>
<td rowspan="1" colspan="1"></td>
<td rowspan="1" colspan="1">Deleterious</td>
<td rowspan="1" colspan="1">Probably_Damaging</td>
<td rowspan="1" colspan="1">33</td>
<td rowspan="1" colspan="1">0</td>
<td rowspan="1" colspan="1">0</td>
<td rowspan="1" colspan="1">0</td>
</tr>
<tr>
<td rowspan="1" colspan="1">3</td>
<td rowspan="1" colspan="1">PAPD4</td>
<td rowspan="1" colspan="1">5</td>
<td rowspan="1" colspan="1">78 938 703</td>
<td rowspan="1" colspan="1">NM_173797</td>
<td rowspan="1" colspan="1">Tta/Gta</td>
<td rowspan="1" colspan="1">L241V</td>
<td rowspan="1" colspan="1"></td>
<td rowspan="1" colspan="1">Tolerated</td>
<td rowspan="1" colspan="1">Benign</td>
<td rowspan="1" colspan="1">15.53</td>
<td rowspan="1" colspan="1">0</td>
<td rowspan="1" colspan="1">0</td>
<td rowspan="1" colspan="1">0</td>
</tr>
<tr>
<td rowspan="1" colspan="1"></td>
<td rowspan="1" colspan="1">VPS53</td>
<td rowspan="1" colspan="1">17</td>
<td rowspan="1" colspan="1">455 114</td>
<td rowspan="1" colspan="1">NM_001128159</td>
<td rowspan="1" colspan="1">Aag/Gag</td>
<td rowspan="1" colspan="1">K622E</td>
<td rowspan="1" colspan="1"></td>
<td rowspan="1" colspan="1">Deleterious</td>
<td rowspan="1" colspan="1">Probably_Damaging</td>
<td rowspan="1" colspan="1">29.7</td>
<td rowspan="1" colspan="1">0</td>
<td rowspan="1" colspan="1">0</td>
<td rowspan="1" colspan="1">0</td>
</tr>
<tr>
<td rowspan="1" colspan="1">4</td>
<td rowspan="1" colspan="1">PMEL</td>
<td rowspan="1" colspan="1">12</td>
<td rowspan="1" colspan="1">56 349 087</td>
<td rowspan="1" colspan="1">NM_001200054</td>
<td rowspan="1" colspan="1">atG/atA</td>
<td rowspan="1" colspan="1">M614I</td>
<td rowspan="1" colspan="1"></td>
<td rowspan="1" colspan="1">Tolerated</td>
<td rowspan="1" colspan="1">Benign</td>
<td rowspan="1" colspan="1">10.33</td>
<td rowspan="1" colspan="1">0</td>
<td rowspan="1" colspan="1">0</td>
<td rowspan="1" colspan="1">0</td>
</tr>
<tr>
<td rowspan="1" colspan="1"></td>
<td rowspan="1" colspan="1">SLC5A9</td>
<td rowspan="1" colspan="1">1</td>
<td rowspan="1" colspan="1">48 695 007</td>
<td rowspan="1" colspan="1">NM_001135181</td>
<td rowspan="1" colspan="1">cCt/cTt</td>
<td rowspan="1" colspan="1">P152L</td>
<td rowspan="1" colspan="1"></td>
<td rowspan="1" colspan="1">Deleterious</td>
<td rowspan="1" colspan="1">Probably_Damaging</td>
<td rowspan="1" colspan="1">33</td>
<td rowspan="1" colspan="1">0</td>
<td rowspan="1" colspan="1">0</td>
<td rowspan="1" colspan="1">0</td>
</tr>
<tr>
<td rowspan="1" colspan="1">5</td>
<td rowspan="1" colspan="1">ASNA1</td>
<td rowspan="1" colspan="1">19</td>
<td rowspan="1" colspan="1">12 858 398</td>
<td rowspan="1" colspan="1">NM_004317</td>
<td rowspan="1" colspan="1">Ctg/Gtg</td>
<td rowspan="1" colspan="1">L303V</td>
<td rowspan="1" colspan="1"></td>
<td rowspan="1" colspan="1">Deleterious</td>
<td rowspan="1" colspan="1">Benign</td>
<td rowspan="1" colspan="1">None</td>
<td rowspan="1" colspan="1">0</td>
<td rowspan="1" colspan="1">0</td>
<td rowspan="1" colspan="1">0</td>
</tr>
<tr>
<td rowspan="1" colspan="1">6</td>
<td rowspan="1" colspan="1">EPPK1</td>
<td rowspan="1" colspan="1">8</td>
<td rowspan="1" colspan="1">14 494 1903</td>
<td rowspan="1" colspan="1">NM_031308</td>
<td rowspan="1" colspan="1">aCg/aTg</td>
<td rowspan="1" colspan="1">T1840M</td>
<td rowspan="1" colspan="1">rs79961029</td>
<td rowspan="1" colspan="1">Tolerated</td>
<td rowspan="1" colspan="1">Benign</td>
<td rowspan="1" colspan="1">9.541</td>
<td rowspan="1" colspan="1">0.008705</td>
<td rowspan="1" colspan="1">0.00838658</td>
<td rowspan="1" colspan="1">0.003023</td>
</tr>
<tr>
<td rowspan="1" colspan="1">7</td>
<td rowspan="1" colspan="1">FBXL17</td>
<td rowspan="1" colspan="1">5</td>
<td rowspan="1" colspan="1">10 770 3586</td>
<td rowspan="1" colspan="1">NM_001163315</td>
<td rowspan="1" colspan="1">gaC/gaA</td>
<td rowspan="1" colspan="1">D354E</td>
<td rowspan="1" colspan="1"></td>
<td rowspan="1" colspan="1">Tolerated</td>
<td rowspan="1" colspan="1">Possibly_Damaging</td>
<td rowspan="1" colspan="1">17.45</td>
<td rowspan="1" colspan="1">0</td>
<td rowspan="1" colspan="1">0</td>
<td rowspan="1" colspan="1">0</td>
</tr>
<tr>
<td rowspan="1" colspan="1">8</td>
<td rowspan="1" colspan="1">KCNV2</td>
<td rowspan="1" colspan="1">9</td>
<td rowspan="1" colspan="1">27 189 66</td>
<td rowspan="1" colspan="1">NM_133497</td>
<td rowspan="1" colspan="1">caG/caT</td>
<td rowspan="1" colspan="1">Q409H</td>
<td rowspan="1" colspan="1"></td>
<td rowspan="1" colspan="1">Tolerated</td>
<td rowspan="1" colspan="1">Benign</td>
<td rowspan="1" colspan="1">13.86</td>
<td rowspan="1" colspan="1">0</td>
<td rowspan="1" colspan="1">0</td>
<td rowspan="1" colspan="1">0</td>
</tr>
<tr>
<td rowspan="1" colspan="1">9</td>
<td rowspan="1" colspan="1">LCT</td>
<td rowspan="1" colspan="1">2</td>
<td rowspan="1" colspan="1">13 654 8243</td>
<td rowspan="1" colspan="1">NM_002299</td>
<td rowspan="1" colspan="1">Aat/Cat</td>
<td rowspan="1" colspan="1">N1774H</td>
<td rowspan="1" colspan="1"></td>
<td rowspan="1" colspan="1">Deleterious</td>
<td rowspan="1" colspan="1">Probably_Damaging</td>
<td rowspan="1" colspan="1">21.9</td>
<td rowspan="1" colspan="1">0</td>
<td rowspan="1" colspan="1">0</td>
<td rowspan="1" colspan="1">0</td>
</tr>
<tr>
<td rowspan="1" colspan="1">10</td>
<td rowspan="1" colspan="1">MGA</td>
<td rowspan="1" colspan="1">15</td>
<td rowspan="1" colspan="1">41 988 608</td>
<td rowspan="1" colspan="1">NM_001164273</td>
<td rowspan="1" colspan="1">cCa/cAa</td>
<td rowspan="1" colspan="1">P467Q</td>
<td rowspan="1" colspan="1"></td>
<td rowspan="1" colspan="1">Deleterious</td>
<td rowspan="1" colspan="1">Probably_Damaging</td>
<td rowspan="1" colspan="1">16.87</td>
<td rowspan="1" colspan="1">0</td>
<td rowspan="1" colspan="1">0</td>
<td rowspan="1" colspan="1">0</td>
</tr>
<tr>
<td rowspan="1" colspan="1">11</td>
<td rowspan="1" colspan="1">PEPD</td>
<td rowspan="1" colspan="1">19</td>
<td rowspan="1" colspan="1">33 878 830</td>
<td rowspan="1" colspan="1">NM_000285</td>
<td rowspan="1" colspan="1">cGc/cAc</td>
<td rowspan="1" colspan="1">R437H</td>
<td rowspan="1" colspan="1">rs373297406</td>
<td rowspan="1" colspan="1">Tolerated</td>
<td rowspan="1" colspan="1">Benign</td>
<td rowspan="1" colspan="1">13.91</td>
<td rowspan="1" colspan="1">0.000329</td>
<td rowspan="1" colspan="1">0.000199681</td>
<td rowspan="1" colspan="1">0.00006709</td>
</tr>
<tr>
<td rowspan="1" colspan="1">12</td>
<td rowspan="1" colspan="1">PML</td>
<td rowspan="1" colspan="1">15</td>
<td rowspan="1" colspan="1">74 327 974</td>
<td rowspan="1" colspan="1">NM_033250</td>
<td rowspan="1" colspan="1">cgG/cgC</td>
<td rowspan="1" colspan="1">R676R</td>
<td rowspan="1" colspan="1"></td>
<td rowspan="1" colspan="1">None</td>
<td rowspan="1" colspan="1">None</td>
<td rowspan="1" colspan="1">None</td>
<td rowspan="1" colspan="1">0</td>
<td rowspan="1" colspan="1">0</td>
<td rowspan="1" colspan="1">0</td>
</tr>
<tr>
<td rowspan="1" colspan="1">13</td>
<td rowspan="1" colspan="1">PSD4</td>
<td rowspan="1" colspan="1">2</td>
<td rowspan="1" colspan="1">11 395 0082</td>
<td rowspan="1" colspan="1">NM_012455</td>
<td rowspan="1" colspan="1">aAc/aGc</td>
<td rowspan="1" colspan="1">N585S</td>
<td rowspan="1" colspan="1"></td>
<td rowspan="1" colspan="1">Tolerated</td>
<td rowspan="1" colspan="1">Benign</td>
<td rowspan="1" colspan="1">9.504</td>
<td rowspan="1" colspan="1">0</td>
<td rowspan="1" colspan="1">0</td>
<td rowspan="1" colspan="1">0</td>
</tr>
<tr>
<td rowspan="1" colspan="1">14</td>
<td rowspan="1" colspan="1">PTEN</td>
<td rowspan="1" colspan="1">10</td>
<td rowspan="1" colspan="1">89 711 992</td>
<td rowspan="1" colspan="1">NM_000314</td>
<td rowspan="1" colspan="1">Cca/Tca</td>
<td rowspan="1" colspan="1">P204S</td>
<td rowspan="1" colspan="1"></td>
<td rowspan="1" colspan="1">Tolerated</td>
<td rowspan="1" colspan="1">Possibly_Damaging</td>
<td rowspan="1" colspan="1">32</td>
<td rowspan="1" colspan="1">0</td>
<td rowspan="1" colspan="1">0</td>
<td rowspan="1" colspan="1">0</td>
</tr>
<tr>
<td rowspan="1" colspan="1">15</td>
<td rowspan="1" colspan="1">SLC52A1</td>
<td rowspan="1" colspan="1">17</td>
<td rowspan="1" colspan="1">49 363 59</td>
<td rowspan="1" colspan="1">NM_001104577</td>
<td rowspan="1" colspan="1">Gcc/Acc</td>
<td rowspan="1" colspan="1">A414T</td>
<td rowspan="1" colspan="1">rs142353672</td>
<td rowspan="1" colspan="1">Tolerated</td>
<td rowspan="1" colspan="1">Benign</td>
<td rowspan="1" colspan="1">11.56</td>
<td rowspan="1" colspan="1">0.007</td>
<td rowspan="1" colspan="1">0</td>
<td rowspan="1" colspan="1">0.00005776</td>
</tr>
</tbody>
</table>
</table-wrap>
<table-wrap id="DDV376TB2" orientation="portrait" position="float">
<label>Table 2.</label>
<caption>
<p>Sequencing metrics</p>
</caption>
<table frame="hsides" rules="groups">
<colgroup span="1">
<col align="left" span="1"></col>
<col align="left" span="1"></col>
<col align="char" char="." span="1"></col>
<col align="char" char="." span="1"></col>
<col align="left" span="1"></col>
</colgroup>
<thead>
<tr>
<th align="left" rowspan="1" colspan="1">Proband</th>
<th align="left" rowspan="1" colspan="1">Total on target (bp)</th>
<th align="left" rowspan="1" colspan="1">Mean on target coverage</th>
<th align="left" rowspan="1" colspan="1">Fraction targeted bases >2x</th>
<th align="left" rowspan="1" colspan="1">Total
<italic>de novo</italic>
coding mutations</th>
</tr>
</thead>
<tbody>
<tr>
<td rowspan="1" colspan="1">1</td>
<td rowspan="1" colspan="1">1 445 598 290</td>
<td rowspan="1" colspan="1">27.12</td>
<td rowspan="1" colspan="1">0.97</td>
<td rowspan="1" colspan="1">3</td>
</tr>
<tr>
<td rowspan="1" colspan="1">2</td>
<td rowspan="1" colspan="1">1 421 276 651</td>
<td rowspan="1" colspan="1">26.52</td>
<td rowspan="1" colspan="1">0.97</td>
<td rowspan="1" colspan="1">2</td>
</tr>
<tr>
<td rowspan="1" colspan="1">3</td>
<td rowspan="1" colspan="1">1 146 375 416</td>
<td rowspan="1" colspan="1">21.47</td>
<td rowspan="1" colspan="1">0.97</td>
<td rowspan="1" colspan="1">2</td>
</tr>
<tr>
<td rowspan="1" colspan="1">4</td>
<td rowspan="1" colspan="1">7 152 790 854</td>
<td rowspan="1" colspan="1">135.14</td>
<td rowspan="1" colspan="1">0.94</td>
<td rowspan="1" colspan="1">2</td>
</tr>
<tr>
<td rowspan="1" colspan="1">5</td>
<td rowspan="1" colspan="1">8 974 607 696</td>
<td rowspan="1" colspan="1">167.43</td>
<td rowspan="1" colspan="1">0.94</td>
<td rowspan="1" colspan="1">1</td>
</tr>
<tr>
<td rowspan="1" colspan="1">6</td>
<td rowspan="1" colspan="1">7 933 070 487</td>
<td rowspan="1" colspan="1">147.95</td>
<td rowspan="1" colspan="1">0.94</td>
<td rowspan="1" colspan="1">1</td>
</tr>
<tr>
<td rowspan="1" colspan="1">7</td>
<td rowspan="1" colspan="1">1 376 003 145</td>
<td rowspan="1" colspan="1">26.44</td>
<td rowspan="1" colspan="1">0.97</td>
<td rowspan="1" colspan="1">1</td>
</tr>
<tr>
<td rowspan="1" colspan="1">8</td>
<td rowspan="1" colspan="1">1 914 732 654</td>
<td rowspan="1" colspan="1">36.21</td>
<td rowspan="1" colspan="1">0.98</td>
<td rowspan="1" colspan="1">1</td>
</tr>
<tr>
<td rowspan="1" colspan="1">9</td>
<td rowspan="1" colspan="1">4 286 967 024</td>
<td rowspan="1" colspan="1">76.61</td>
<td rowspan="1" colspan="1">0.95</td>
<td rowspan="1" colspan="1">1</td>
</tr>
<tr>
<td rowspan="1" colspan="1">10</td>
<td rowspan="1" colspan="1">6 133 197 922</td>
<td rowspan="1" colspan="1">112.73</td>
<td rowspan="1" colspan="1">0.97</td>
<td rowspan="1" colspan="1">1</td>
</tr>
<tr>
<td rowspan="1" colspan="1">11</td>
<td rowspan="1" colspan="1">3 381 480 354</td>
<td rowspan="1" colspan="1">61.73</td>
<td rowspan="1" colspan="1">0.94</td>
<td rowspan="1" colspan="1">1</td>
</tr>
<tr>
<td rowspan="1" colspan="1">12</td>
<td rowspan="1" colspan="1">6 529 240 671</td>
<td rowspan="1" colspan="1">121.95</td>
<td rowspan="1" colspan="1">0.94</td>
<td rowspan="1" colspan="1">1</td>
</tr>
<tr>
<td rowspan="1" colspan="1">13</td>
<td rowspan="1" colspan="1">4 485 511 060</td>
<td rowspan="1" colspan="1">87.10</td>
<td rowspan="1" colspan="1">0.99</td>
<td rowspan="1" colspan="1">1</td>
</tr>
<tr>
<td rowspan="1" colspan="1">14</td>
<td rowspan="1" colspan="1">1 843 089 171</td>
<td rowspan="1" colspan="1">33.41</td>
<td rowspan="1" colspan="1">0.98</td>
<td rowspan="1" colspan="1">1</td>
</tr>
<tr>
<td rowspan="1" colspan="1">15</td>
<td rowspan="1" colspan="1">6 364 816 268</td>
<td rowspan="1" colspan="1">119.29</td>
<td rowspan="1" colspan="1">0.94</td>
<td rowspan="1" colspan="1">1</td>
</tr>
<tr>
<td rowspan="1" colspan="1">16</td>
<td rowspan="1" colspan="1">3 347 839 519</td>
<td rowspan="1" colspan="1">59.15</td>
<td rowspan="1" colspan="1">0.95</td>
<td rowspan="1" colspan="1">0</td>
</tr>
<tr>
<td rowspan="1" colspan="1">17</td>
<td rowspan="1" colspan="1">1 171 269 433</td>
<td rowspan="1" colspan="1">22.19</td>
<td rowspan="1" colspan="1">0.96</td>
<td rowspan="1" colspan="1">0</td>
</tr>
<tr>
<td rowspan="1" colspan="1">18</td>
<td rowspan="1" colspan="1">2 110 891 218</td>
<td rowspan="1" colspan="1">39.22</td>
<td rowspan="1" colspan="1">0.98</td>
<td rowspan="1" colspan="1">0</td>
</tr>
<tr>
<td rowspan="1" colspan="1">19</td>
<td rowspan="1" colspan="1">4 145 185 493</td>
<td rowspan="1" colspan="1">80.55</td>
<td rowspan="1" colspan="1">0.99</td>
<td rowspan="1" colspan="1">0</td>
</tr>
<tr>
<td rowspan="1" colspan="1">20</td>
<td rowspan="1" colspan="1">3 649 693 000</td>
<td rowspan="1" colspan="1">70.18</td>
<td rowspan="1" colspan="1">0.99</td>
<td rowspan="1" colspan="1">0</td>
</tr>
<tr>
<td rowspan="1" colspan="1">21</td>
<td rowspan="1" colspan="1">1 461 050 157</td>
<td rowspan="1" colspan="1">28.87</td>
<td rowspan="1" colspan="1">0.93</td>
<td rowspan="1" colspan="1">0</td>
</tr>
<tr>
<td rowspan="1" colspan="1">Average</td>
<td rowspan="1" colspan="1">3 822 604 118</td>
<td rowspan="1" colspan="1">71.49</td>
<td rowspan="1" colspan="1">0.96</td>
<td rowspan="1" colspan="1">0.95</td>
</tr>
</tbody>
</table>
</table-wrap>
<fig id="DDV376F1" orientation="portrait" position="float">
<label>Figure 1.</label>
<caption>
<p>Sanger sequencing chromatograms for (
<bold>A</bold>
)
<italic>ASNA1</italic>
(p.L303V); (
<bold>B</bold>
)
<italic>PTEN</italic>
(p.P204S); and (
<bold>C</bold>
)
<italic>VAPB</italic>
(p.ΔV25). Top: father; middle: mother; bottom: proband.</p>
</caption>
<graphic xlink:href="ddv37601"></graphic>
</fig>
</p>
<p>From the protein network analysis of the 20 validated
<italic>de novo</italic>
mutation carrying genes,
<italic>PTEN</italic>
,
<italic>VAPB</italic>
,
<italic>ASNA1</italic>
,
<italic>PML</italic>
and
<italic>VPS53</italic>
showed interactions with the known PD genes (Fig.
<xref ref-type="fig" rid="DDV376F2">2</xref>
). However,
<italic>VPS53</italic>
and
<italic>PML</italic>
did not show high interaction scores with disease-causing genes. Robust functional interactions with known PD genes were identified for the three remaining candidates. (Table
<xref ref-type="table" rid="DDV376TB3">3</xref>
and Fig.
<xref ref-type="fig" rid="DDV376F2">2</xref>
).
<table-wrap id="DDV376TB3" orientation="portrait" position="float">
<label>Table 3.</label>
<caption>
<p>Scores from the STRING protein–protein analysis restricted to
<italic>Homo sapiens</italic>
</p>
</caption>
<table frame="hsides" rules="groups">
<colgroup span="1">
<col align="left" span="1"></col>
<col align="left" span="1"></col>
<col align="char" char="." span="1"></col>
<col align="left" span="1"></col>
<col align="char" char="." span="1"></col>
<col align="left" span="1"></col>
<col align="char" char="." span="1"></col>
</colgroup>
<thead>
<tr>
<th align="left" rowspan="1" colspan="1">Gene</th>
<th align="left" rowspan="1" colspan="1">Interaction</th>
<th align="left" rowspan="1" colspan="1">Total score</th>
<th align="left" rowspan="1" colspan="1">Co-expression</th>
<th align="left" rowspan="1" colspan="1">Experimental</th>
<th align="left" rowspan="1" colspan="1">Knowledge</th>
<th align="left" rowspan="1" colspan="1">Text-mining</th>
</tr>
</thead>
<tbody>
<tr>
<td rowspan="6" colspan="1">PTEN</td>
<td rowspan="1" colspan="1">PARK7</td>
<td rowspan="1" colspan="1">0.990</td>
<td rowspan="1" colspan="1">0</td>
<td rowspan="1" colspan="1">0.844</td>
<td rowspan="1" colspan="1">0</td>
<td rowspan="1" colspan="1">0.940</td>
</tr>
<tr>
<td rowspan="1" colspan="1">SYNJ1</td>
<td rowspan="1" colspan="1">0.928</td>
<td rowspan="1" colspan="1">0</td>
<td rowspan="1" colspan="1">0.116</td>
<td rowspan="1" colspan="1">0.900</td>
<td rowspan="1" colspan="1">0.242</td>
</tr>
<tr>
<td rowspan="1" colspan="1">PINK1</td>
<td rowspan="1" colspan="1">0.699</td>
<td rowspan="1" colspan="1">0</td>
<td rowspan="1" colspan="1">0.172</td>
<td rowspan="1" colspan="1">0</td>
<td rowspan="1" colspan="1">0.643</td>
</tr>
<tr>
<td rowspan="1" colspan="1">LRRK2</td>
<td rowspan="1" colspan="1">0.667</td>
<td rowspan="1" colspan="1">0</td>
<td rowspan="1" colspan="1">0.295</td>
<td rowspan="1" colspan="1">0</td>
<td rowspan="1" colspan="1">0.537</td>
</tr>
<tr>
<td rowspan="1" colspan="1">PARK2</td>
<td rowspan="1" colspan="1">0.608</td>
<td rowspan="1" colspan="1">0</td>
<td rowspan="1" colspan="1">0</td>
<td rowspan="1" colspan="1">0</td>
<td rowspan="1" colspan="1">0.599</td>
</tr>
<tr>
<td rowspan="1" colspan="1">SNCA</td>
<td rowspan="1" colspan="1">0.472</td>
<td rowspan="1" colspan="1">0</td>
<td rowspan="1" colspan="1">0</td>
<td rowspan="1" colspan="1">0</td>
<td rowspan="1" colspan="1">0.472</td>
</tr>
<tr>
<td rowspan="3" colspan="1">VAPB</td>
<td rowspan="1" colspan="1">STX1B</td>
<td rowspan="1" colspan="1">0.919</td>
<td rowspan="1" colspan="1">0</td>
<td rowspan="1" colspan="1">0.730</td>
<td rowspan="1" colspan="1">0</td>
<td rowspan="1" colspan="1">0.697</td>
</tr>
<tr>
<td rowspan="1" colspan="1">SYNJ1</td>
<td rowspan="1" colspan="1">0.510</td>
<td rowspan="1" colspan="1">0</td>
<td rowspan="1" colspan="1">0.363</td>
<td rowspan="1" colspan="1">0</td>
<td rowspan="1" colspan="1">0.245</td>
</tr>
<tr>
<td rowspan="1" colspan="1">VPS13C</td>
<td rowspan="1" colspan="1">0.449</td>
<td rowspan="1" colspan="1">0</td>
<td rowspan="1" colspan="1">0</td>
<td rowspan="1" colspan="1">0</td>
<td rowspan="1" colspan="1">0.436</td>
</tr>
<tr>
<td rowspan="2" colspan="1">PML</td>
<td rowspan="1" colspan="1">HLA-DRB5</td>
<td rowspan="1" colspan="1">0.900</td>
<td rowspan="1" colspan="1">0</td>
<td rowspan="1" colspan="1">0</td>
<td rowspan="1" colspan="1">0.900</td>
<td rowspan="1" colspan="1">0</td>
</tr>
<tr>
<td rowspan="1" colspan="1">PARK2</td>
<td rowspan="1" colspan="1">0.507</td>
<td rowspan="1" colspan="1">0</td>
<td rowspan="1" colspan="1">0</td>
<td rowspan="1" colspan="1">0</td>
<td rowspan="1" colspan="1">0.507</td>
</tr>
<tr>
<td rowspan="1" colspan="1">ASNA1</td>
<td rowspan="1" colspan="1">VAPB</td>
<td rowspan="1" colspan="1">0.887</td>
<td rowspan="1" colspan="1">0</td>
<td rowspan="1" colspan="1">0.413</td>
<td rowspan="1" colspan="1">0</td>
<td rowspan="1" colspan="1">0.812</td>
</tr>
<tr>
<td rowspan="2" colspan="1">VPS53</td>
<td rowspan="1" colspan="1">VPS35</td>
<td rowspan="1" colspan="1">0.502</td>
<td rowspan="1" colspan="1">0.111</td>
<td rowspan="1" colspan="1">0</td>
<td rowspan="1" colspan="1">0</td>
<td rowspan="1" colspan="1">0.451</td>
</tr>
<tr>
<td rowspan="1" colspan="1">LRRK2</td>
<td rowspan="1" colspan="1">0.413</td>
<td rowspan="1" colspan="1">0</td>
<td rowspan="1" colspan="1">0.102</td>
<td rowspan="1" colspan="1">0</td>
<td rowspan="1" colspan="1">0.374</td>
</tr>
</tbody>
</table>
<table-wrap-foot>
<fn id="tblfn1">
<p>The total scores are computed by combining the probabilities from the different evidence channels (co-expression, experimental, knowledge, text-mining), correcting for the probability of randomly observing an interaction, as described in STRING′s documentation.</p>
</fn>
</table-wrap-foot>
</table-wrap>
<fig id="DDV376F2" orientation="portrait" position="float">
<label>Figure 2.</label>
<caption>
<p>Action view from the STRING network analysis. Colours correspond to interactions according to the legend (top left); Evidence view (grey) corresponds mainly to interactions obtained from text-mining sources. The remaining interaction colours are based on published experimental results, with Green representing activation, Red inhibition, etc. If the directionality of the effect is known, this is indicated by the symbol at the end of the edge next to the protein that is acted upon. Down-regulation is a red bar and up-regulation is a green arrow.
<bold>*</bold>
denotes genes identified to carry
<italic>de novo</italic>
mutations.</p>
</caption>
<graphic xlink:href="ddv37602"></graphic>
</fig>
</p>
<p>A total of 10 interactions were observed between proteins corresponding to genes containing
<italic>de novo</italic>
variants and proteins corresponding to known PD genes. This is significantly higher than expected by chance (
<italic>P</italic>
= 0.009), however, after correcting for the total numbers of interactions observed for each protein, the result does not retain statistical significance (
<italic>P</italic>
= 0.162). Five out of the ten interactions involved
<italic>PTEN</italic>
. Nevertheless, this number was not significantly higher than expected by chance (
<italic>P</italic>
= 0.226), after correcting for the large total number of interactions involving
<italic>PTEN</italic>
.</p>
<p>Seventy-four interactions were observed between the proteins corresponding to the 33 known PD genes. This is significantly higher than expected by chance (
<italic>P</italic>
< 0.000001). Several individual proteins showed a significant excess of interactions, even after correcting for the multiple testing of proteins. The interaction network between the proteins corresponding to PD genes is shown in
<ext-link ext-link-type="uri" xlink:href="http://hmg.oxfordjournals.org/lookup/suppl/doi:10.1093/hmg/ddv376/-/DC1">Supplementary Material</ext-link>
(see
<ext-link ext-link-type="uri" xlink:href="http://hmg.oxfordjournals.org/lookup/suppl/doi:10.1093/hmg/ddv376/-/DC1">Supplementary Material, Table S1 and Fig. S1</ext-link>
).</p>
<p>Interestingly, when taking into account the allele frequency from the ExAC database for all the genes studied here, we observed the lowest total number of variants normalized by protein size to be present in the three genes with higher interaction with known PD genes—
<italic>PTEN</italic>
,
<italic>VAPB</italic>
and
<italic>ASNA1</italic>
(see
<ext-link ext-link-type="uri" xlink:href="http://hmg.oxfordjournals.org/lookup/suppl/doi:10.1093/hmg/ddv376/-/DC1">Supplementary Material, Fig. S2</ext-link>
), suggesting these may be under stronger selection pressure.</p>
<p>The International Parkinson's Disease Genomics Consortium (IPDGC) dataset shows 2 missense and 1 frameshift mutations in
<italic>PTEN</italic>
(all in PD cases, no rare variants were found in controls); 4 missense, 1 frameshift and 1 stop-gained mutations in
<italic>ASNA1</italic>
; and 5 missense and 1 deletion mutations in
<italic>VAPB</italic>
. With the exception of three common variants in
<italic>VAPB</italic>
, all others are exceedingly rare in the population (Table
<xref ref-type="table" rid="DDV376TB4">4</xref>
) and heterozygous in the IPDGC dataset.
<table-wrap id="DDV376TB4" orientation="portrait" position="float">
<label>Table 4.</label>
<caption>
<p>List of IPDGC variants in the top candidate genes</p>
</caption>
<table frame="hsides" rules="groups">
<colgroup span="1">
<col align="left" span="1"></col>
<col align="left" span="1"></col>
<col align="left" span="1"></col>
<col align="left" span="1"></col>
<col align="left" span="1"></col>
<col align="left" span="1"></col>
<col align="char" char="." span="1"></col>
<col align="left" span="1"></col>
<col align="left" span="1"></col>
<col align="left" span="1"></col>
<col align="char" span="1"></col>
</colgroup>
<thead>
<tr>
<th align="left" rowspan="1" colspan="1">Gene</th>
<th align="left" rowspan="1" colspan="1">Chromosome</th>
<th align="left" rowspan="1" colspan="1">Position</th>
<th align="left" rowspan="1" colspan="1">rs_ids</th>
<th align="left" rowspan="1" colspan="1">Codon change</th>
<th align="left" rowspan="1" colspan="1">Amino acid change</th>
<th align="left" rowspan="1" colspan="1">MAF cases</th>
<th align="left" rowspan="1" colspan="1">MAF controls</th>
<th align="left" rowspan="1" colspan="1">MAF ESP6500</th>
<th align="left" rowspan="1" colspan="1">MAF ExAC</th>
<th align="left" rowspan="1" colspan="1">ExAC alleles</th>
</tr>
</thead>
<tbody>
<tr>
<td rowspan="7" colspan="1">ASNA1</td>
<td rowspan="1" colspan="1">19</td>
<td rowspan="1" colspan="1">12 848 341</td>
<td rowspan="1" colspan="1"></td>
<td rowspan="1" colspan="1">Frameshift (insG)</td>
<td rowspan="1" colspan="1">−8</td>
<td rowspan="1" colspan="1">0.039</td>
<td rowspan="1" colspan="1">0</td>
<td rowspan="1" colspan="1">0</td>
<td rowspan="1" colspan="1">0</td>
<td rowspan="1" colspan="1">0</td>
</tr>
<tr>
<td rowspan="1" colspan="1"></td>
<td rowspan="1" colspan="1">12 848 341</td>
<td rowspan="1" colspan="1"></td>
<td rowspan="1" colspan="1">Tgg/Ggg</td>
<td rowspan="1" colspan="1">W8G</td>
<td rowspan="1" colspan="1">0.039</td>
<td rowspan="1" colspan="1">0</td>
<td rowspan="1" colspan="1">0</td>
<td rowspan="1" colspan="1">0</td>
<td rowspan="1" colspan="1">0</td>
</tr>
<tr>
<td rowspan="1" colspan="1"></td>
<td rowspan="1" colspan="1">12 848 342</td>
<td rowspan="1" colspan="1">rs138730527</td>
<td rowspan="1" colspan="1">tGg/tAg</td>
<td rowspan="1" colspan="1">W8* (stop gained)</td>
<td rowspan="1" colspan="1">0</td>
<td rowspan="1" colspan="1">0.099</td>
<td rowspan="1" colspan="1">0.0154</td>
<td rowspan="1" colspan="1">0.00001726</td>
<td rowspan="1" colspan="1">1</td>
</tr>
<tr>
<td rowspan="1" colspan="1"></td>
<td rowspan="1" colspan="1">12 849 344</td>
<td rowspan="1" colspan="1"></td>
<td rowspan="1" colspan="1">Ctc/Gtc</td>
<td rowspan="1" colspan="1">L61V</td>
<td rowspan="1" colspan="1">0.039</td>
<td rowspan="1" colspan="1">0</td>
<td rowspan="1" colspan="1">0</td>
<td rowspan="1" colspan="1">0</td>
<td rowspan="1" colspan="1">0</td>
</tr>
<tr>
<td rowspan="1" colspan="1"></td>
<td rowspan="1" colspan="1">12 849 356</td>
<td rowspan="1" colspan="1"></td>
<td rowspan="1" colspan="1">Cgt/Tgt</td>
<td rowspan="1" colspan="1">R65C</td>
<td rowspan="1" colspan="1">0.039</td>
<td rowspan="1" colspan="1">0</td>
<td rowspan="1" colspan="1">0</td>
<td rowspan="1" colspan="1">0</td>
<td rowspan="1" colspan="1">0</td>
</tr>
<tr>
<td rowspan="1" colspan="1"></td>
<td rowspan="1" colspan="1">12 858 023</td>
<td rowspan="1" colspan="1"></td>
<td rowspan="1" colspan="1">Ctg/Gtg</td>
<td rowspan="1" colspan="1">L208V</td>
<td rowspan="1" colspan="1">0.039</td>
<td rowspan="1" colspan="1">0</td>
<td rowspan="1" colspan="1">0</td>
<td rowspan="1" colspan="1">0</td>
<td rowspan="1" colspan="1">0</td>
</tr>
<tr>
<td rowspan="1" colspan="1"></td>
<td rowspan="1" colspan="1">12 858 901</td>
<td rowspan="1" colspan="1">rs200489378</td>
<td rowspan="1" colspan="1">Ccc/Tcc</td>
<td rowspan="1" colspan="1">P344S</td>
<td rowspan="1" colspan="1">0.039</td>
<td rowspan="1" colspan="1">0</td>
<td rowspan="1" colspan="1">0.0077</td>
<td rowspan="1" colspan="1">0.00007819</td>
<td rowspan="1" colspan="1">9</td>
</tr>
<tr>
<td rowspan="3" colspan="1">PTEN</td>
<td rowspan="1" colspan="1">10</td>
<td rowspan="1" colspan="1">89 685 310</td>
<td rowspan="1" colspan="1"></td>
<td rowspan="1" colspan="1">Aat/Gat</td>
<td rowspan="1" colspan="1">N69D</td>
<td rowspan="1" colspan="1">0.04</td>
<td rowspan="1" colspan="1">0</td>
<td rowspan="1" colspan="1">0</td>
<td rowspan="1" colspan="1">0</td>
<td rowspan="1" colspan="1">0</td>
</tr>
<tr>
<td rowspan="1" colspan="1"></td>
<td rowspan="1" colspan="1">89 692 866</td>
<td rowspan="1" colspan="1"></td>
<td rowspan="1" colspan="1">aAt/aGt</td>
<td rowspan="1" colspan="1">N117S</td>
<td rowspan="1" colspan="1">0.039</td>
<td rowspan="1" colspan="1">0</td>
<td rowspan="1" colspan="1">0</td>
<td rowspan="1" colspan="1">0.000008237</td>
<td rowspan="1" colspan="1">1</td>
</tr>
<tr>
<td rowspan="1" colspan="1"></td>
<td rowspan="1" colspan="1">89 720 798</td>
<td rowspan="1" colspan="1"></td>
<td rowspan="1" colspan="1">Frameshift (delTACT)</td>
<td rowspan="1" colspan="1">−317</td>
<td rowspan="1" colspan="1">0.039</td>
<td rowspan="1" colspan="1">0</td>
<td rowspan="1" colspan="1">0</td>
<td rowspan="1" colspan="1">0</td>
<td rowspan="1" colspan="1">0</td>
</tr>
<tr>
<td rowspan="6" colspan="1">VAPB</td>
<td rowspan="1" colspan="1">20</td>
<td rowspan="1" colspan="1">56 964 571</td>
<td rowspan="1" colspan="1"></td>
<td rowspan="1" colspan="1">cGa/cTa</td>
<td rowspan="1" colspan="1">R19L</td>
<td rowspan="1" colspan="1">0.041</td>
<td rowspan="1" colspan="1">0</td>
<td rowspan="1" colspan="1">0</td>
<td rowspan="1" colspan="1">0</td>
<td rowspan="1" colspan="1">0</td>
</tr>
<tr>
<td rowspan="1" colspan="1"></td>
<td rowspan="1" colspan="1">57 014 058</td>
<td rowspan="1" colspan="1"></td>
<td rowspan="1" colspan="1">Ttg/Atg</td>
<td rowspan="1" colspan="1">L125M</td>
<td rowspan="1" colspan="1">0.039</td>
<td rowspan="1" colspan="1">0</td>
<td rowspan="1" colspan="1">0</td>
<td rowspan="1" colspan="1">0.00001661</td>
<td rowspan="1" colspan="1">2</td>
</tr>
<tr>
<td rowspan="1" colspan="1"></td>
<td rowspan="1" colspan="1">57 014 075</td>
<td rowspan="1" colspan="1">rs146459055</td>
<td rowspan="1" colspan="1">gaT/gaG</td>
<td rowspan="1" colspan="1">D130E</td>
<td rowspan="1" colspan="1">0.079</td>
<td rowspan="1" colspan="1">0</td>
<td rowspan="1" colspan="1">0.0692</td>
<td rowspan="1" colspan="1">0.001359</td>
<td rowspan="1" colspan="1">163</td>
</tr>
<tr>
<td rowspan="1" colspan="1"></td>
<td rowspan="1" colspan="1">57 016 039</td>
<td rowspan="1" colspan="1"></td>
<td rowspan="1" colspan="1">agttct/agt (del)</td>
<td rowspan="1" colspan="1">SS160S</td>
<td rowspan="1" colspan="1">0.313</td>
<td rowspan="1" colspan="1">0.298</td>
<td rowspan="1" colspan="1">0</td>
<td rowspan="1" colspan="1">0.001695</td>
<td rowspan="1" colspan="1">203</td>
</tr>
<tr>
<td rowspan="1" colspan="1"></td>
<td rowspan="1" colspan="1">57 016 076</td>
<td rowspan="1" colspan="1">rs143144050</td>
<td rowspan="1" colspan="1">atG/atA</td>
<td rowspan="1" colspan="1">M170I</td>
<td rowspan="1" colspan="1">0.313</td>
<td rowspan="1" colspan="1">0.099</td>
<td rowspan="1" colspan="1">0.1153</td>
<td rowspan="1" colspan="1">0.001373</td>
<td rowspan="1" colspan="1">165</td>
</tr>
<tr>
<td rowspan="1" colspan="1"></td>
<td rowspan="1" colspan="1">57 016 117</td>
<td rowspan="1" colspan="1">rs145483046</td>
<td rowspan="1" colspan="1">cGg/cAg</td>
<td rowspan="1" colspan="1">R184Q</td>
<td rowspan="1" colspan="1">0.039</td>
<td rowspan="1" colspan="1">0</td>
<td rowspan="1" colspan="1">0.0308</td>
<td rowspan="1" colspan="1">0.00007541</td>
<td rowspan="1" colspan="1">9</td>
</tr>
</tbody>
</table>
<table-wrap-foot>
<fn id="tblfn2">
<p>Synonymous mutations were not included.</p>
</fn>
<fn id="tblfn3">
<p>MAF, minor allele frequency.</p>
</fn>
</table-wrap-foot>
</table-wrap>
</p>
<p>The frameshift mutation in
<italic>PTEN</italic>
(NM_000314:c.955_958delACTT:p.Thr319*) was identified in a case from the IPDGC dataset with positive, albeit limited, family history for PD: the proband's father developed the disease in his 50s. Samples from both parents and unaffected sibling were available. After testing for segregation in the limited family, we observed that the mutation in
<italic>PTEN</italic>
is, in all likelihood,
<italic>de novo</italic>
, since it is absent from either parent, and thus unlikely to cause the disease in this family. However, we should note that the age at onset is noticeably different between the affected father and the proband in this family (54 years in the father and 38 years in the proband).</p>
<p>When looking at the cases with confirmed
<italic>de novo</italic>
mutations in the genes with a functional interaction with known PD causing genes, these showed a typical presentation of PD.</p>
<p>The
<italic>PTEN de novo</italic>
mutation carrier, aged 23, is a British Caucasian male who noticed a left-sided thumb action tremor. Gradually, the tremor progressed to be present at rest and to involve his left arm. Four years later, he developed gait difficulties with some shuffling and stumbling. During the same period the tremor spread to involve his right arm as well, and at the age of 28 he was diagnosed with young-onset Parkinson's disease (YOPD). He was started on carbidopa/levodopa with significant improvement on his gait but no effect on the tremor. Only two years after treatment, he developed drug-induced dyskinesias. At the time his treatment had consisted of carbidopa/levodopa, rasagiline and ropinirole, and, thus, amantadine was added. Age 32 and due to clinical progression and particularly more severe dyskinesias, the patient underwent bilateral deep brain stimulation of the subthalamic nucleus with very good response. Currently, at the age of 36, he suffers from off-periods, has difficulties speaking, as well as increased urinary urgency. His medication consists of carbidopa/levodopa, entacapone, rasagiline, ropinirole and amantadine.</p>
<p>The
<italic>VAPB de novo</italic>
mutation carrier is a 44-year-old Caucasian man of British descent, who first noticed a left arm rest tremor at the age of 41. He also complained of shoulder stiffness on the same side and some difficulties in performing fine tasks with his left hand. Clinical examination revealed asymmetric parkinsonism (left>right side) and a subsequent dopamine transporter SPECT scan (DaTSCAN) confirmed the presence of a presynaptic dopaminergic deficit corresponding to the more affected body side. He was diagnosed with YOPD. Treatment was commenced with rasagiline and subsequently pramipexole was added.</p>
<p>The
<italic>ASNA1 de novo</italic>
mutation carrier developed PD at an age of 40 years. The first symptom was reduced right arm swing, soon followed by tremor, muscle stiffness, dexterity, gait and writing difficulties. At age 43 he experienced fatigue, constipation and freezing. The father is healthy and the mother suffers from rheumatoid arthritis. The family history for PD is negative.</p>
</sec>
<sec sec-type="discussion" id="s3">
<title>Discussion</title>
<p>This is the first study to systematically screen for
<italic>de novo</italic>
mutations in early-onset sporadic PD using parent–proband trios. We performed exome sequencing in 21 trios and found 20
<italic>de novo</italic>
mutations (19 single nucleotide variants and one in-frame deletion). All probands were heterozygous in those positions. The genes screened are involved in a variety of functions from poly(A) polymerase activity to ubiquitin-binding protein (see
<ext-link ext-link-type="uri" xlink:href="http://hmg.oxfordjournals.org/lookup/suppl/doi:10.1093/hmg/ddv376/-/DC1">Supplementary Material, Table S2</ext-link>
) and some are thought to be involved in known PD pathways.</p>
<p>
<italic>PTEN</italic>
, the phosphatase and tensin gene, has functions in neuronal migration, neuron number regulation and apoptosis in response to oxidative stress (
<xref rid="DDV376C25" ref-type="bibr">25</xref>
).
<italic>PTEN</italic>
somatic down-regulation has been linked to tumours, neural proliferation and is being proposed as a target for neuroprotection in PD cases (
<xref rid="DDV376C26" ref-type="bibr">26</xref>
,
<xref rid="DDV376C27" ref-type="bibr">27</xref>
), whereas
<italic>PTEN</italic>
mutations in the germline have been linked to developmental neurological diseases (
<xref rid="DDV376C28" ref-type="bibr">28</xref>
). Mutations in
<italic>PTEN</italic>
are mainly linked to macrocephaly, autism and ataxia (
<xref rid="DDV376C29" ref-type="bibr">29</xref>
<xref rid="DDV376C32" ref-type="bibr">32</xref>
).</p>
<p>We found novel variants in
<italic>PTEN</italic>
. One of our trio-based proband showed a
<italic>de novo</italic>
missense mutation in
<italic>PTEN</italic>
(p.P204S). Interestingly, mutations in
<italic>PTEN</italic>
seem to be rare: there is only one stop-gained and one frameshift in ExAC for a total of 149 coding variant alleles out of ∼120 000. Similarly, in our IPDGC dataset we found a relatively small number of variants in
<italic>PTEN</italic>
: four synonymous mutations, two missense mutations (p.N69D and p.N117S) and one frameshift, all of them very rare or non-existent in the population (Table
<xref ref-type="table" rid="DDV376TB4">4</xref>
). The two missense mutations are from patients with sporadic PD and the patient with the frameshift mutation has a reported positive familial history of PD. Although the frameshift mutation did not show segregation in this family, it is remarkable that it is another apparent
<italic>de novo</italic>
mutation in a case with a much lower age at onset than the affected father.</p>
<p>The delicate equilibrium of the various functions of
<italic>PTEN</italic>
means that it is often difficult to interpret genetic variability in this gene.
<italic>PTEN</italic>
transcriptionally activates
<italic>PINK1</italic>
, which is downregulated in the event of
<italic>PTEN</italic>
ablation (
<xref rid="DDV376C33" ref-type="bibr">33</xref>
,
<xref rid="DDV376C34" ref-type="bibr">34</xref>
).
<italic>PINK1</italic>
variants are responsible for PD through a mechanism that is thought to involve oxidative stress caused by mitochondrial dysfunction.
<italic>PTEN</italic>
was also linked to the induction of cytochrome c oxidase activity and ATP production in mitochondria (
<xref rid="DDV376C34" ref-type="bibr">34</xref>
). On the other hand,
<italic>PTEN</italic>
induces cell death and inhibits the PI3K/Akt signalling that reduces inflammation and promotes cell proliferation and survival (
<xref rid="DDV376C26" ref-type="bibr">26</xref>
). Furthermore,
<italic>DJ-1</italic>
physically binds to
<italic>PTEN</italic>
negatively regulating its activity which, in turn, upregulates PI3K/Akt pathway (
<xref rid="DDV376C35" ref-type="bibr">35</xref>
).</p>
<p>
<italic>PTEN</italic>
has a large range of activities and cellular locations in a variety of cells. Different mutations in this gene can affect PTEN activity and localization in different ways (
<xref rid="DDV376C36" ref-type="bibr">36</xref>
). Deletion of the N-terminal domain PBM (residues 1–15) impedes PTEN interaction with the plasma membrane [see (
<xref rid="DDV376C37" ref-type="bibr">37</xref>
) for PTEN protein structure]. When the phosphatase domain (residues 15–185) is mutated, there is a reduction in phosphatase activity and an increase in PI3K/Akt activity. The C2 domain (residues 185–351) inhibits cell migration. The C-tail domain (residues 351–401) is important for interactions with transmembrane proteins and a 2 bp C-terminal PDZ-binding domain (
<xref rid="DDV376C36" ref-type="bibr">36</xref>
).</p>
<p>Most of the mutations described for developmental anomalies are missense mutations and appear mainly on the phosphatase and C2 domains, e.g. (
<xref rid="DDV376C30" ref-type="bibr">30</xref>
,
<xref rid="DDV376C32" ref-type="bibr">32</xref>
,
<xref rid="DDV376C38" ref-type="bibr">38</xref>
,
<xref rid="DDV376C39" ref-type="bibr">39</xref>
). In addition, a variant can affect the gene's function only in specific subcellular localizations. In 2007 Trotman and colleagues (
<xref rid="DDV376C40" ref-type="bibr">40</xref>
) described a missense mutation p.K289E that did not affect the membrane localization of PTEN, but the protein was not present in the nucleus. Another nuclear mislocalization was apparent when mutations were present in the ATP binding motifs at the residues 60–73 and 122–136 (
<xref rid="DDV376C41" ref-type="bibr">41</xref>
). This nuclear mislocalization was observed in AD cases with the redistribution of PTEN to the cytoplasm into intracellular neurofibrillary tangles and senile plaques (
<xref rid="DDV376C42" ref-type="bibr">42</xref>
).</p>
<p>VAPB is involved in vesicular and endosomal trafficking and was identified in ALS cases (
<xref rid="DDV376C43" ref-type="bibr">43</xref>
<xref rid="DDV376C45" ref-type="bibr">45</xref>
).
<italic>VAPB</italic>
expression levels are significantly lower in the spinal cord of ALS cases (
<xref rid="DDV376C46" ref-type="bibr">46</xref>
). Furthermore, missense mutations in
<italic>VAPB</italic>
protein such as p.P56S and p.T46I cause intracellular ubiquitinated aggregates that predominantly affect motor neurons and induce motor neuron death (
<xref rid="DDV376C43" ref-type="bibr">43</xref>
,
<xref rid="DDV376C45" ref-type="bibr">45</xref>
).</p>
<p>We found a
<italic>de novo</italic>
in-frame deletion of a valine residue at position 25 (p.ΔV25) in
<italic>VAPB</italic>
. Only one other deletion in
<italic>VAPB</italic>
was documented, p.ΔS160, which is common in the population and any association with ALS was discarded (
<xref rid="DDV376C47" ref-type="bibr">47</xref>
). Interestingly, there are only two high impact variants in
<italic>VAPB</italic>
in the ExAC dataset: two nonsense variants each in a single sample, out of >60 000 individuals.</p>
<p>Structural studies indicate human VAPB protein is organized in three main conserved domains consisting of the N-terminal major sperm protein (MSP) domain from residue 1 to 125, the coiled coil (CC) domain from residue 151 to 195 and the C-terminal transmembrane (TM) domain including the remaining residues until residue 243 (
<xref rid="DDV376C48" ref-type="bibr">48</xref>
). The MSP is very important in VAPB as it is the domain that binds to the FFAT (two phenylalanines in an acidic tract) motif of lipid-binding-proteins and is involved in the ubiquitination pathway. VAPB binds through that domain to proteins such as
<italic>STX1A</italic>
and STX1B, p97 ATPase and
<italic>ASNA1</italic>
(
<xref rid="DDV376C49" ref-type="bibr">49</xref>
). Misfolding of MSP domain induces the formation of the aggregates and the binding site becomes unavailable on the endoplasmic reticulum (
<xref rid="DDV376C50" ref-type="bibr">50</xref>
).</p>
<p>As Gupta
<italic>et al.</italic>
(
<xref rid="DDV376C48" ref-type="bibr">48</xref>
) noticed, the p.T46I and p.P56S missense mutations that cause ALS are located in the MSP. On the other hand, the p.ΔS160 deletion, located on the CC is common and does not cause ALS. Additionally, another study detected a missense variant p.D130E that showed no prevalence in cases (
<xref rid="DDV376C51" ref-type="bibr">51</xref>
) and falls between the MSP and the CC domains. Mutations in the MSP could be the leading cause for the dysfunction in the motor neurons. Nevertheless, some evidence in
<italic>Drosophila</italic>
is starting to show that mutations in the C-terminal TM can cause neurodegeneration in the corresponding variant p.V234I in humans (
<xref rid="DDV376C52" ref-type="bibr">52</xref>
).</p>
<p>Our results follow the same trend. The identified
<italic>de novo</italic>
p.ΔV25 deletion is absent in the general population and is located in the MSP. The mutations p.R19L and p.L125 M identified in the IPDGC dataset, both from sporadic cases, are also in the MSP (Table
<xref ref-type="table" rid="DDV376TB4">4</xref>
), are not present in the general population and only the latter shows two heterozygous cases in ExAC. When moving towards the CC in the IPDGC dataset, we find the frequent p.D130E and p.ΔS160 variants mentioned above, and two extra missense mutations (p.M170I and p.R184Q) with higher frequencies in the general population.</p>
<p>We found the
<italic>VAPB de novo</italic>
variant in a trio with two additional
<italic>de novo</italic>
variants in
<italic>COL12A1</italic>
(p.R754Q) and
<italic>RUNDC3A</italic>
(p.C108F).
<italic>COL12A1</italic>
was associated with myopathy (
<xref rid="DDV376C53" ref-type="bibr">53</xref>
) and the only association to a neurodegenerative disease is its decreased amount in the cervical spinal cord of patients with ALS (
<xref rid="DDV376C54" ref-type="bibr">54</xref>
).
<italic>COL12A1</italic>
presented 96 variants in the IPDGC dataset (see
<ext-link ext-link-type="uri" xlink:href="http://hmg.oxfordjournals.org/lookup/suppl/doi:10.1093/hmg/ddv376/-/DC1">Supplementary Material, Table S3</ext-link>
). In contrast,
<italic>RUNDC3A</italic>
presented five mutations, three of them rare and observed only in patients. Due to the fact that this trio presented three confirmed
<italic>de novo</italic>
variants, it is not possible to say with certainty, which, if any, is associated with the disease. However the fact that
<italic>VAPB</italic>
directly interacts with known PD genes strongly argues in favour of the involvement of this gene.</p>
<p>The results at
<italic>VAPB</italic>
and
<italic>PTEN</italic>
, which have both been shown to be involved in disparate phenotypes, fit nicely with the growing body of evidence suggesting that pleiotropic events are a greatly underappreciated event in human disease (
<xref rid="DDV376C55" ref-type="bibr">55</xref>
).</p>
<p>For
<italic>ASNA1</italic>
, we found one
<italic>de novo</italic>
missense mutation p.L303V in one of the trios not present in any database. High impact variants in this gene seem rare, with mainly missense variants present in ExAC and only three frameshifts (1 allele each) and one stop-gain mutations. In the IPDGC dataset, we see a similar trend with only seven rare variants. The missense variants in IPDGC (Table
<xref ref-type="table" rid="DDV376TB4">4</xref>
) were identified in patients presenting with positive familial history of PD (variants: p.L61V and p.R65C); and early-onset sporadic PD (variant p.L208V).
<italic>ASNA1</italic>
is known to have a function in transporting proteins as a part of the transmembrane recognition complex (TRC). Interestingly,
<italic>ASNA1</italic>
has been shown to bind to
<italic>VAPB</italic>
(
<xref rid="DDV376C49" ref-type="bibr">49</xref>
), although a role in human neurodegenerative diseases has still to be investigated.</p>
<p>In conclusion, we have identified
<italic>de novo</italic>
mutations in early-onset, sporadic PD cases. We have used publicly available population genetic data and our in-house dataset of exome-sequenced PD cases and controls to replicate and confirm our findings. From our list of confirmed
<italic>de novo</italic>
mutations, three genes are particularly interesting, as they have been reported to interact with known PD genes and present rare, case-specific variants in our large cohort of PD cases.</p>
<p>It is plausible that some of the apparently sporadic PD cases are due to recessive or compound heterozygous mutations in genes yet to be associated with disease; however we did not identify any better recessive candidates in these trios.</p>
<p>The present study has some shortcomings that we are not able to immediately address. The sample size is small; unfortunately it is very difficult to identify PD cases with both parents available for genetic analyses. The methodology used, although appropriate and in line with what has been previously published for
<italic>de novo</italic>
mutations in disease, misses a significant amount of genetic variability, particularly in the form of non-coding variants. Additionally, apparently
<italic>de novo</italic>
variants can actually be inherited from a parent that has low-level mosaicism for that variant. This is a difficult issue to address [as recently shown by Acuna-Hidalgo and colleagues (
<xref rid="DDV376C56" ref-type="bibr">56</xref>
)] and would require very high sequencing coverage, perhaps even of multiple tissues, in all individuals and is thus beyond the scope of the present work. In addition, definitive proof of pathological significance for PD can only be achieved by one of the following: identifying the same mutation in complete segregation in large families, identifying multiple families with even limited segregation of the same variants or functional studies of the protein harbouring the mutations showing altered function.</p>
<p>On the other hand, we have been able to screen, in an unbiased manner, a cohort of over 1200 PD cases and 400 controls for mutations in all of the genes identified in our trio study, having confirmed the presence of rare, case-specific mutations in the same genes.</p>
<p>
<italic>De novo</italic>
mutations may be a vastly underappreciated cause of apparently sporadic forms of adult-onset disease, such as PD. We show
<italic>de novo</italic>
mutations in genes, which are known to interact with known PD-causing genes, and we suggest these may be responsible for the disease in these cases.</p>
</sec>
<sec sec-type="methods" id="s4">
<title>Material and Methods</title>
<p>We performed whole-exome sequencing in 21 full trios. Criteria for inclusion of cases were based on age at onset (<40 years), typical presentation of PD with negative family history, absence of pathogenic mutations in any of the known PD genes and availability of both parents for genetic studies. All cases included are of European descent.</p>
<p>Exomes for the 21 trios were captured using Illumina's Nextera Rapid Capture according to the manufacturer's recommendations. Indexed and pooled libraries were then sequenced on Illumina's HiSeq2000 (100 bp, paired-end) to a mean target coverage of 30×. Reads were mapped to GRCh37 using bwa-mem (0.7.12) and followed GATK Best Practices for v3 (
<xref rid="DDV376C57" ref-type="bibr">57</xref>
). Briefly, this consisted of flagging duplicate reads, realignment around indels, base recalibration and variant calling on all trios simultaneously using the HaplotypeCaller tool. Variant qualities were then recalibrated as described in DePristo
<italic>et al</italic>
. (
<xref rid="DDV376C58" ref-type="bibr">58</xref>
). After obtaining a high quality variant set, we performed a genotype-refinement protocol, as described in (
<uri xlink:href="http://gatkforums.broadinstitute.org/discussion/4723/genotype-refinement-workflow">http://gatkforums.broadinstitute.org/discussion/4723/genotype-refinement-workflow</uri>
). This protocol uses population and pedigree priors to improve estimates of genotype likelihoods, providing higher quality variant calls.</p>
<p>To confirm all relationships and identify unreported familial relationships, we performed identity-by-descent (IBD) estimation for all pairs of individuals. The proportion of IBD was obtained with PLINK (
<xref rid="DDV376C59" ref-type="bibr">59</xref>
) and varied between 0.35–0.45 for the trio pairs of each parent with the descendant, and equal to zero between parents and all the remaining pairs. The lower end of the spectrum of IBD values is due to lower variant qualities in some samples.</p>
<p>We used three publicly available resources to extract genome-wide variant frequency data: the Exome Sequencing Project (ESP6500) (
<xref rid="DDV376C60" ref-type="bibr">60</xref>
), the 1000 Genomes Project (Oct 2014) (
<xref rid="DDV376C61" ref-type="bibr">61</xref>
) and the ExAC (
<xref rid="DDV376C62" ref-type="bibr">62</xref>
).</p>
<p>Sanger sequencing was used to confirm the presence of all
<italic>de novo</italic>
mutations identified by whole-exome sequencing. Primers designed for this validation are shown in the
<ext-link ext-link-type="uri" xlink:href="http://hmg.oxfordjournals.org/lookup/suppl/doi:10.1093/hmg/ddv376/-/DC1">Supplementary Material</ext-link>
(see
<ext-link ext-link-type="uri" xlink:href="http://hmg.oxfordjournals.org/lookup/suppl/doi:10.1093/hmg/ddv376/-/DC1">Supplementary Material, Table S4</ext-link>
; PCR conditions used are available upon request). Table
<xref ref-type="table" rid="DDV376TB1">1</xref>
shows each of the transcripts used as basis for annotation of the variants identified.</p>
<p>Protein–protein interactions and functional protein associations were defined with STRING v10 (
<xref rid="DDV376C63" ref-type="bibr">63</xref>
). The input consisted of a list of known PD genes (
<xref rid="DDV376C64" ref-type="bibr">64</xref>
), and genes containing validated
<italic>de novo</italic>
variants. We considered total scores above 0.400 (medium confidence) that correspond to the combination of four different scores: co-expression, experimental, knowledge and text-mining. The total number of interactions between proteins corresponding to genes containing
<italic>de novo</italic>
variants and proteins corresponding to known PD genes was calculated, as was the number of such interactions involving the protein corresponding to
<italic>de novo</italic>
gene in turn. The significance of these quantities was assessed by randomly positioning the proteins corresponding to
<italic>de novo</italic>
and known PD genes on the interaction map such that each protein is mapped to a protein with the same total number of interactions (to avoid potential bias caused by the genes of interest having large numbers of interactions, thus being likely to interact with each other by chance). The number of interactions between each
<italic>de novo</italic>
protein and PD proteins, and the total number of such interactions, was calculated on the randomized map and compared with that observed in the actual data. This process was repeated 1 000 000 times to obtain
<italic>P</italic>
-values. Correction for multiple testing of proteins was performed by comparing the maximum number of interactions for any single protein in each simulated dataset to the number of interactions observed for each protein in the real data. A similar procedure was used to test for an excess of interactions between the proteins corresponding to known PD genes. It should be noted that throughout the text, interactions are defined as per STRING's definitions and in many cases these are only predicted, without experimental evidence.</p>
<p>Finally, we extracted information for genes of interest from in-house data, produced within the IPDGC. This dataset consisted of a total of 1715 samples exome-sequenced with 1243 of diagnosed PD cases and 472 controls. Details from this dataset have been previously published (
<xref rid="DDV376C65" ref-type="bibr">65</xref>
).</p>
</sec>
<sec id="s5">
<title>Supplementary Material</title>
<p>
<ext-link ext-link-type="uri" xlink:href="http://hmg.oxfordjournals.org/lookup/suppl/doi:10.1093/hmg/ddv376/-/DC1">Supplementary Material is available at
<italic>HMG</italic>
online.</ext-link>
</p>
</sec>
<sec id="s6">
<title>Funding</title>
<p>Funding to pay the Open Access publication charges for this article was provided by the Wellcome Trust and the Medical Research Council.</p>
</sec>
<sec sec-type="supplementary-material">
<title>Supplementary Material</title>
<supplementary-material id="PMC_1" content-type="local-data">
<caption>
<title>Supplementary Data</title>
</caption>
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<media xlink:role="associated-file" mimetype="application" mime-subtype="msword" xlink:href="supp_ddv376_ddv376supp_file1.docx"></media>
<media xlink:role="associated-file" mimetype="application" mime-subtype="msword" xlink:href="supp_ddv376_ddv376supp_file2.docx"></media>
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</supplementary-material>
</sec>
</body>
<back>
<ack>
<title>Acknowledgements</title>
<p>This work was supported by a Research Grant from the Bachmann-Strauss Foundation. J.B. is supported by a Research Fellowship from the Alzheimer's Society. C.G. receives academic research support from the DFG (GA2031/1–2) and has received support in the form of a travel grant from the Guarantors of Brain. R.G. is supported by a Research Fellowship from the Alzheimer's Research UK. S.A.S. was supported by the Else Kroener-Fresenius Stiftung and received intramural funding from the University of Kiel. She received royalties from Oxford University Press and Springer.</p>
<p>
<italic>Conflict of Interest statement.</italic>
The authors report no conflicts of interest.</p>
</ack>
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