A Genotype-First Approach for the Molecular and Clinical Characterization of Uncommon De Novo Microdeletion of 20q13.33
Identifieur interne : 004511 ( Pmc/Curation ); précédent : 004510; suivant : 004512A Genotype-First Approach for the Molecular and Clinical Characterization of Uncommon De Novo Microdeletion of 20q13.33
Auteurs : Ryan N. Traylor [États-Unis] ; Damien L. Bruno [Australie] ; Trent Burgess [Australie] ; Robert Wildin [États-Unis] ; Anne Spencer [États-Unis] ; Devika Ganesamoorthy [Australie] ; David J. Amor [Australie] ; Matthew Hunter [Australie] ; Michael Caplan [États-Unis] ; Jill A. Rosenfeld [États-Unis] ; Aaron Theisen [États-Unis] ; Beth S. Torchia [États-Unis] ; Lisa G. Shaffer [États-Unis] ; Blake C. Ballif [États-Unis] ; Howard R. Slater [Australie]Source :
- PLoS ONE [ 1932-6203 ] ; 2010.
Abstract
Subtelomeric deletions of the long arm of chromosome 20 are rare, with only 11 described in the literature. Clinical features of individuals with these microdeletions include severe limb malformations, skeletal abnormalities, growth retardation, developmental and speech delay, mental retardation, seizures and mild, non-specific dysmorphic features.
We characterized microdeletions at 20q13.33 in six individuals referred for genetic evaluation of developmental delay, mental retardation, and/or congenital anomalies. A comparison to previously reported cases of 20q13.33 microdeletion shows phenotypic overlap, with clinical features that include mental retardation, developmental delay, speech and language deficits, seizures, and behavior problems such as autistic spectrum disorder. There does not appear to be a clinically recognizable constellation of dysmorphic features among individuals with subtelomeric 20q microdeletions.
Based on genotype-phenotype correlation among individuals in this and previous studies, we discuss several possible candidate genes for specific clinical features, including
Url:
DOI: 10.1371/journal.pone.0012462
PubMed: 20805988
PubMed Central: 2929201
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<author><name sortKey="Spencer, Anne" sort="Spencer, Anne" uniqKey="Spencer A" first="Anne" last="Spencer">Anne Spencer</name>
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</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>St. Luke's Regional Medical Center, Boise, Idaho</wicri:regionArea>
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<author><name sortKey="Ganesamoorthy, Devika" sort="Ganesamoorthy, Devika" uniqKey="Ganesamoorthy D" first="Devika" last="Ganesamoorthy">Devika Ganesamoorthy</name>
<affiliation wicri:level="1"><nlm:aff id="aff2"><addr-line>Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia</addr-line>
</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria</wicri:regionArea>
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<affiliation wicri:level="1"><nlm:aff id="aff3"><addr-line>Department of Pediatrics, University of Melbourne, Royal Children's Hospital, Parkville, Victoria, Australia</addr-line>
</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Department of Pediatrics, University of Melbourne, Royal Children's Hospital, Parkville, Victoria</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Amor, David J" sort="Amor, David J" uniqKey="Amor D" first="David J." last="Amor">David J. Amor</name>
<affiliation wicri:level="1"><nlm:aff id="aff2"><addr-line>Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia</addr-line>
</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff3"><addr-line>Department of Pediatrics, University of Melbourne, Royal Children's Hospital, Parkville, Victoria, Australia</addr-line>
</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Department of Pediatrics, University of Melbourne, Royal Children's Hospital, Parkville, Victoria</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Hunter, Matthew" sort="Hunter, Matthew" uniqKey="Hunter M" first="Matthew" last="Hunter">Matthew Hunter</name>
<affiliation wicri:level="1"><nlm:aff id="aff2"><addr-line>Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia</addr-line>
</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Caplan, Michael" sort="Caplan, Michael" uniqKey="Caplan M" first="Michael" last="Caplan">Michael Caplan</name>
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</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Northshore University Healthsystem, Pritzker School of Medicine, University of Chicago, Chicago, Illinois</wicri:regionArea>
</affiliation>
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<author><name sortKey="Rosenfeld, Jill A" sort="Rosenfeld, Jill A" uniqKey="Rosenfeld J" first="Jill A." last="Rosenfeld">Jill A. Rosenfeld</name>
<affiliation wicri:level="1"><nlm:aff id="aff1"><addr-line>Signature Genomic Laboratories, Spokane, Washington, United States of America</addr-line>
</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Signature Genomic Laboratories, Spokane, Washington</wicri:regionArea>
</affiliation>
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<author><name sortKey="Theisen, Aaron" sort="Theisen, Aaron" uniqKey="Theisen A" first="Aaron" last="Theisen">Aaron Theisen</name>
<affiliation wicri:level="1"><nlm:aff id="aff1"><addr-line>Signature Genomic Laboratories, Spokane, Washington, United States of America</addr-line>
</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Signature Genomic Laboratories, Spokane, Washington</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Torchia, Beth S" sort="Torchia, Beth S" uniqKey="Torchia B" first="Beth S." last="Torchia">Beth S. Torchia</name>
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</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Signature Genomic Laboratories, Spokane, Washington</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Shaffer, Lisa G" sort="Shaffer, Lisa G" uniqKey="Shaffer L" first="Lisa G." last="Shaffer">Lisa G. Shaffer</name>
<affiliation wicri:level="1"><nlm:aff id="aff1"><addr-line>Signature Genomic Laboratories, Spokane, Washington, United States of America</addr-line>
</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Signature Genomic Laboratories, Spokane, Washington</wicri:regionArea>
</affiliation>
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<author><name sortKey="Ballif, Blake C" sort="Ballif, Blake C" uniqKey="Ballif B" first="Blake C." last="Ballif">Blake C. Ballif</name>
<affiliation wicri:level="1"><nlm:aff id="aff1"><addr-line>Signature Genomic Laboratories, Spokane, Washington, United States of America</addr-line>
</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Signature Genomic Laboratories, Spokane, Washington</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Slater, Howard R" sort="Slater, Howard R" uniqKey="Slater H" first="Howard R." last="Slater">Howard R. Slater</name>
<affiliation wicri:level="1"><nlm:aff id="aff2"><addr-line>Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia</addr-line>
</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff3"><addr-line>Department of Pediatrics, University of Melbourne, Royal Children's Hospital, Parkville, Victoria, Australia</addr-line>
</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Department of Pediatrics, University of Melbourne, Royal Children's Hospital, Parkville, Victoria</wicri:regionArea>
</affiliation>
</author>
</analytic>
<series><title level="j">PLoS ONE</title>
<idno type="eISSN">1932-6203</idno>
<imprint><date when="2010">2010</date>
</imprint>
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<front><div type="abstract" xml:lang="en"><sec><title>Background</title>
<p>Subtelomeric deletions of the long arm of chromosome 20 are rare, with only 11 described in the literature. Clinical features of individuals with these microdeletions include severe limb malformations, skeletal abnormalities, growth retardation, developmental and speech delay, mental retardation, seizures and mild, non-specific dysmorphic features.</p>
</sec>
<sec><title>Methodology/Principal Findings</title>
<p>We characterized microdeletions at 20q13.33 in six individuals referred for genetic evaluation of developmental delay, mental retardation, and/or congenital anomalies. A comparison to previously reported cases of 20q13.33 microdeletion shows phenotypic overlap, with clinical features that include mental retardation, developmental delay, speech and language deficits, seizures, and behavior problems such as autistic spectrum disorder. There does not appear to be a clinically recognizable constellation of dysmorphic features among individuals with subtelomeric 20q microdeletions.</p>
</sec>
<sec><title>Conclusions/Significance</title>
<p>Based on genotype-phenotype correlation among individuals in this and previous studies, we discuss several possible candidate genes for specific clinical features, including <italic>ARFGAP1</italic>
, <italic>CHRNA4</italic>
and <italic>KCNQ2</italic>
and neurodevelopmental deficits. Deletion of this region may play an important role in cognitive development.</p>
</sec>
</div>
</front>
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</author>
<author><name sortKey="Theisen, A" uniqKey="Theisen A">A Theisen</name>
</author>
<author><name sortKey="Bejjani, Ba" uniqKey="Bejjani B">BA Bejjani</name>
</author>
<author><name sortKey="Ballif, Bc" uniqKey="Ballif B">BC Ballif</name>
</author>
<author><name sortKey="Aylsworth, As" uniqKey="Aylsworth A">AS Aylsworth</name>
</author>
</analytic>
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<biblStruct><analytic><author><name sortKey="Fraisse, J" uniqKey="Fraisse J">J Fraisse</name>
</author>
<author><name sortKey="Bertheas, Mf" uniqKey="Bertheas M">MF Bertheas</name>
</author>
<author><name sortKey="Frere, F" uniqKey="Frere F">F Frere</name>
</author>
<author><name sortKey="Lauras, B" uniqKey="Lauras B">B Lauras</name>
</author>
<author><name sortKey="Rolland, Mo" uniqKey="Rolland M">MO Rolland</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Shabtai, F" uniqKey="Shabtai F">F Shabtai</name>
</author>
<author><name sortKey="Ben Sasson, E" uniqKey="Ben Sasson E">E Ben-Sasson</name>
</author>
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</TEI>
<pmc article-type="research-article"><pmc-dir>properties open_access</pmc-dir>
<front><journal-meta><journal-id journal-id-type="nlm-ta">PLoS One</journal-id>
<journal-id journal-id-type="publisher-id">plos</journal-id>
<journal-id journal-id-type="pmc">plosone</journal-id>
<journal-title-group><journal-title>PLoS ONE</journal-title>
</journal-title-group>
<issn pub-type="epub">1932-6203</issn>
<publisher><publisher-name>Public Library of Science</publisher-name>
<publisher-loc>San Francisco, USA</publisher-loc>
</publisher>
</journal-meta>
<article-meta><article-id pub-id-type="pmid">20805988</article-id>
<article-id pub-id-type="pmc">2929201</article-id>
<article-id pub-id-type="publisher-id">10-PONE-RA-17041R1</article-id>
<article-id pub-id-type="doi">10.1371/journal.pone.0012462</article-id>
<article-categories><subj-group subj-group-type="heading"><subject>Research Article</subject>
</subj-group>
<subj-group subj-group-type="Discipline"><subject>Genetics and Genomics</subject>
<subject>Genetics and Genomics/Genetics of Disease</subject>
<subject>Genetics and Genomics/Medical Genetics</subject>
</subj-group>
</article-categories>
<title-group><article-title>A Genotype-First Approach for the Molecular and Clinical Characterization of Uncommon De Novo Microdeletion of 20q13.33</article-title>
<alt-title alt-title-type="running-head">Microdeletions at 20q13.33</alt-title>
</title-group>
<contrib-group><contrib contrib-type="author"><name><surname>Traylor</surname>
<given-names>Ryan N.</given-names>
</name>
<xref ref-type="aff" rid="aff1"><sup>1</sup>
</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Bruno</surname>
<given-names>Damien L.</given-names>
</name>
<xref ref-type="aff" rid="aff2"><sup>2</sup>
</xref>
<xref ref-type="aff" rid="aff3"><sup>3</sup>
</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Burgess</surname>
<given-names>Trent</given-names>
</name>
<xref ref-type="aff" rid="aff2"><sup>2</sup>
</xref>
<xref ref-type="aff" rid="aff3"><sup>3</sup>
</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Wildin</surname>
<given-names>Robert</given-names>
</name>
<xref ref-type="aff" rid="aff4"><sup>4</sup>
</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Spencer</surname>
<given-names>Anne</given-names>
</name>
<xref ref-type="aff" rid="aff4"><sup>4</sup>
</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Ganesamoorthy</surname>
<given-names>Devika</given-names>
</name>
<xref ref-type="aff" rid="aff2"><sup>2</sup>
</xref>
<xref ref-type="aff" rid="aff3"><sup>3</sup>
</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Amor</surname>
<given-names>David J.</given-names>
</name>
<xref ref-type="aff" rid="aff2"><sup>2</sup>
</xref>
<xref ref-type="aff" rid="aff3"><sup>3</sup>
</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Hunter</surname>
<given-names>Matthew</given-names>
</name>
<xref ref-type="aff" rid="aff2"><sup>2</sup>
</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Caplan</surname>
<given-names>Michael</given-names>
</name>
<xref ref-type="aff" rid="aff5"><sup>5</sup>
</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Rosenfeld</surname>
<given-names>Jill A.</given-names>
</name>
<xref ref-type="aff" rid="aff1"><sup>1</sup>
</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Theisen</surname>
<given-names>Aaron</given-names>
</name>
<xref ref-type="aff" rid="aff1"><sup>1</sup>
</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Torchia</surname>
<given-names>Beth S.</given-names>
</name>
<xref ref-type="aff" rid="aff1"><sup>1</sup>
</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Shaffer</surname>
<given-names>Lisa G.</given-names>
</name>
<xref ref-type="aff" rid="aff1"><sup>1</sup>
</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Ballif</surname>
<given-names>Blake C.</given-names>
</name>
<xref ref-type="aff" rid="aff1"><sup>1</sup>
</xref>
<xref ref-type="corresp" rid="cor1"><sup>*</sup>
</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Slater</surname>
<given-names>Howard R.</given-names>
</name>
<xref ref-type="aff" rid="aff2"><sup>2</sup>
</xref>
<xref ref-type="aff" rid="aff3"><sup>3</sup>
</xref>
</contrib>
</contrib-group>
<aff id="aff1"><label>1</label>
<addr-line>Signature Genomic Laboratories, Spokane, Washington, United States of America</addr-line>
</aff>
<aff id="aff2"><label>2</label>
<addr-line>Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia</addr-line>
</aff>
<aff id="aff3"><label>3</label>
<addr-line>Department of Pediatrics, University of Melbourne, Royal Children's Hospital, Parkville, Victoria, Australia</addr-line>
</aff>
<aff id="aff4"><label>4</label>
<addr-line>St. Luke's Regional Medical Center, Boise, Idaho, United States of America</addr-line>
</aff>
<aff id="aff5"><label>5</label>
<addr-line>Northshore University Healthsystem, Pritzker School of Medicine, University of Chicago, Chicago, Illinois, United States of America</addr-line>
</aff>
<contrib-group><contrib contrib-type="editor"><name><surname>Toland</surname>
<given-names>Amanda Ewart</given-names>
</name>
<role>Editor</role>
<xref ref-type="aff" rid="edit1"></xref>
</contrib>
</contrib-group>
<aff id="edit1">Ohio State University Medical Center, United States of America</aff>
<author-notes><corresp id="cor1">* E-mail: <email>ballif@signaturegenomics.com</email>
</corresp>
<fn fn-type="con"><p>Conceived and designed the experiments: LGS BCB. Analyzed the data: BST. Contributed reagents/materials/analysis tools: DLB TB RW AS DG DJA MH MC JAR HRS. Wrote the paper: RNT AT.</p>
</fn>
</author-notes>
<pub-date pub-type="collection"><year>2010</year>
</pub-date>
<pub-date pub-type="epub"><day>27</day>
<month>8</month>
<year>2010</year>
</pub-date>
<volume>5</volume>
<issue>8</issue>
<elocation-id>e12462</elocation-id>
<history><date date-type="received"><day>12</day>
<month>3</month>
<year>2010</year>
</date>
<date date-type="accepted"><day>16</day>
<month>6</month>
<year>2010</year>
</date>
</history>
<permissions><copyright-statement>Traylor et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.</copyright-statement>
</permissions>
<abstract><sec><title>Background</title>
<p>Subtelomeric deletions of the long arm of chromosome 20 are rare, with only 11 described in the literature. Clinical features of individuals with these microdeletions include severe limb malformations, skeletal abnormalities, growth retardation, developmental and speech delay, mental retardation, seizures and mild, non-specific dysmorphic features.</p>
</sec>
<sec><title>Methodology/Principal Findings</title>
<p>We characterized microdeletions at 20q13.33 in six individuals referred for genetic evaluation of developmental delay, mental retardation, and/or congenital anomalies. A comparison to previously reported cases of 20q13.33 microdeletion shows phenotypic overlap, with clinical features that include mental retardation, developmental delay, speech and language deficits, seizures, and behavior problems such as autistic spectrum disorder. There does not appear to be a clinically recognizable constellation of dysmorphic features among individuals with subtelomeric 20q microdeletions.</p>
</sec>
<sec><title>Conclusions/Significance</title>
<p>Based on genotype-phenotype correlation among individuals in this and previous studies, we discuss several possible candidate genes for specific clinical features, including <italic>ARFGAP1</italic>
, <italic>CHRNA4</italic>
and <italic>KCNQ2</italic>
and neurodevelopmental deficits. Deletion of this region may play an important role in cognitive development.</p>
</sec>
</abstract>
<counts><page-count count="7"></page-count>
</counts>
</article-meta>
</front>
</pmc>
</record>
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