Genomic aberrations of the CACNA2D1 gene in three patients with epilepsy and intellectual disability
Identifieur interne : 000046 ( Pmc/Corpus ); précédent : 000045; suivant : 000047Genomic aberrations of the CACNA2D1 gene in three patients with epilepsy and intellectual disability
Auteurs : Sarah Vergult ; Annelies Dheedene ; Alfred Meurs ; Fran Faes ; Bertrand Isidor ; Sandra Janssens ; Agnès Gautier ; Cédric Le Caignec ; Björn MentenSource :
- European Journal of Human Genetics [ 1018-4813 ] ; 2014.
Abstract
Voltage-gated calcium channels have an important role in neurotransmission. Aberrations affecting genes encoding the alpha subunit of these channels have been associated with epilepsy and neuropsychiatric disorders such as autism or schizophrenia. Here we report three patients with a genomic aberration affecting the
Url:
DOI: 10.1038/ejhg.2014.141
PubMed: 25074461
PubMed Central: 4402620
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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Genomic aberrations of the <italic>CACNA2D1</italic> gene in three patients with epilepsy and intellectual disability</title><author><name sortKey="Vergult, Sarah" sort="Vergult, Sarah" uniqKey="Vergult S" first="Sarah" last="Vergult">Sarah Vergult</name><affiliation><nlm:aff id="aff1"><institution>Center for Medical Genetics, Ghent University, Ghent University Hospital</institution>, Ghent,<country>Belgium</country></nlm:aff></affiliation></author><author><name sortKey="Dheedene, Annelies" sort="Dheedene, Annelies" uniqKey="Dheedene A" first="Annelies" last="Dheedene">Annelies Dheedene</name><affiliation><nlm:aff id="aff1"><institution>Center for Medical Genetics, Ghent University, Ghent University Hospital</institution>, Ghent,<country>Belgium</country></nlm:aff></affiliation></author><author><name sortKey="Meurs, Alfred" sort="Meurs, Alfred" uniqKey="Meurs A" first="Alfred" last="Meurs">Alfred Meurs</name><affiliation><nlm:aff id="aff2"><institution>Laboratory for Clinical and Experimental Neurophysiology, Neurobiology and Neuropsychology, Department of Neurology, Ghent University, Ghent University Hospital</institution>, Ghent,<country>Belgium</country></nlm:aff></affiliation></author><author><name sortKey="Faes, Fran" sort="Faes, Fran" uniqKey="Faes F" first="Fran" last="Faes">Fran Faes</name><affiliation><nlm:aff id="aff3"><institution>Centrum voor Ontwikkelingsstoornissen (COS), Ghent University Hospital</institution>, Ghent,<country>Belgium</country></nlm:aff></affiliation></author><author><name sortKey="Isidor, Bertrand" sort="Isidor, Bertrand" uniqKey="Isidor B" first="Bertrand" last="Isidor">Bertrand Isidor</name><affiliation><nlm:aff id="aff4"><institution>Service de Génétique Médicale, Institut de Biologie</institution>, Nantes,<country>France</country></nlm:aff></affiliation></author><author><name sortKey="Janssens, Sandra" sort="Janssens, Sandra" uniqKey="Janssens S" first="Sandra" last="Janssens">Sandra Janssens</name><affiliation><nlm:aff id="aff1"><institution>Center for Medical Genetics, Ghent University, Ghent University Hospital</institution>, Ghent,<country>Belgium</country></nlm:aff></affiliation></author><author><name sortKey="Gautier, Agnes" sort="Gautier, Agnes" uniqKey="Gautier A" first="Agnès" last="Gautier">Agnès Gautier</name><affiliation><nlm:aff id="aff5"><institution>Service de Pédiatrie, CHU</institution>, Nantes,<country>France</country></nlm:aff></affiliation></author><author><name sortKey="Le Caignec, Cedric" sort="Le Caignec, Cedric" uniqKey="Le Caignec C" first="Cédric" last="Le Caignec">Cédric Le Caignec</name><affiliation><nlm:aff id="aff4"><institution>Service de Génétique Médicale, Institut de Biologie</institution>, Nantes,<country>France</country></nlm:aff></affiliation></author><author><name sortKey="Menten, Bjorn" sort="Menten, Bjorn" uniqKey="Menten B" first="Björn" last="Menten">Björn Menten</name><affiliation><nlm:aff id="aff1"><institution>Center for Medical Genetics, Ghent University, Ghent University Hospital</institution>, Ghent,<country>Belgium</country></nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">25074461</idno><idno type="pmc">4402620</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4402620</idno><idno type="RBID">PMC:4402620</idno><idno type="doi">10.1038/ejhg.2014.141</idno><date when="2014">2014</date><idno type="wicri:Area/Pmc/Corpus">000046</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">000046</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Genomic aberrations of the <italic>CACNA2D1</italic> gene in three patients with epilepsy and intellectual disability</title><author><name sortKey="Vergult, Sarah" sort="Vergult, Sarah" uniqKey="Vergult S" first="Sarah" last="Vergult">Sarah Vergult</name><affiliation><nlm:aff id="aff1"><institution>Center for Medical Genetics, Ghent University, Ghent University Hospital</institution>, Ghent,<country>Belgium</country></nlm:aff></affiliation></author><author><name sortKey="Dheedene, Annelies" sort="Dheedene, Annelies" uniqKey="Dheedene A" first="Annelies" last="Dheedene">Annelies Dheedene</name><affiliation><nlm:aff id="aff1"><institution>Center for Medical Genetics, Ghent University, Ghent University Hospital</institution>, Ghent,<country>Belgium</country></nlm:aff></affiliation></author><author><name sortKey="Meurs, Alfred" sort="Meurs, Alfred" uniqKey="Meurs A" first="Alfred" last="Meurs">Alfred Meurs</name><affiliation><nlm:aff id="aff2"><institution>Laboratory for Clinical and Experimental Neurophysiology, Neurobiology and Neuropsychology, Department of Neurology, Ghent University, Ghent University Hospital</institution>, Ghent,<country>Belgium</country></nlm:aff></affiliation></author><author><name sortKey="Faes, Fran" sort="Faes, Fran" uniqKey="Faes F" first="Fran" last="Faes">Fran Faes</name><affiliation><nlm:aff id="aff3"><institution>Centrum voor Ontwikkelingsstoornissen (COS), Ghent University Hospital</institution>, Ghent,<country>Belgium</country></nlm:aff></affiliation></author><author><name sortKey="Isidor, Bertrand" sort="Isidor, Bertrand" uniqKey="Isidor B" first="Bertrand" last="Isidor">Bertrand Isidor</name><affiliation><nlm:aff id="aff4"><institution>Service de Génétique Médicale, Institut de Biologie</institution>, Nantes,<country>France</country></nlm:aff></affiliation></author><author><name sortKey="Janssens, Sandra" sort="Janssens, Sandra" uniqKey="Janssens S" first="Sandra" last="Janssens">Sandra Janssens</name><affiliation><nlm:aff id="aff1"><institution>Center for Medical Genetics, Ghent University, Ghent University Hospital</institution>, Ghent,<country>Belgium</country></nlm:aff></affiliation></author><author><name sortKey="Gautier, Agnes" sort="Gautier, Agnes" uniqKey="Gautier A" first="Agnès" last="Gautier">Agnès Gautier</name><affiliation><nlm:aff id="aff5"><institution>Service de Pédiatrie, CHU</institution>, Nantes,<country>France</country></nlm:aff></affiliation></author><author><name sortKey="Le Caignec, Cedric" sort="Le Caignec, Cedric" uniqKey="Le Caignec C" first="Cédric" last="Le Caignec">Cédric Le Caignec</name><affiliation><nlm:aff id="aff4"><institution>Service de Génétique Médicale, Institut de Biologie</institution>, Nantes,<country>France</country></nlm:aff></affiliation></author><author><name sortKey="Menten, Bjorn" sort="Menten, Bjorn" uniqKey="Menten B" first="Björn" last="Menten">Björn Menten</name><affiliation><nlm:aff id="aff1"><institution>Center for Medical Genetics, Ghent University, Ghent University Hospital</institution>, Ghent,<country>Belgium</country></nlm:aff></affiliation></author></analytic><series><title level="j">European Journal of Human Genetics</title><idno type="ISSN">1018-4813</idno><idno type="eISSN">1476-5438</idno><imprint><date when="2014">2014</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>Voltage-gated calcium channels have an important role in neurotransmission. Aberrations affecting genes encoding the alpha subunit of these channels have been associated with epilepsy and neuropsychiatric disorders such as autism or schizophrenia. Here we report three patients with a genomic aberration affecting the <italic>CACNA2D1</italic> gene encoding the <italic>α</italic><sub>2</sub><italic>δ</italic> subunit of these voltage-gated calcium channels. All three patients present with epilepsy and intellectual disability pinpointing the <italic>CACNA2D1</italic> gene as an interesting candidate gene for these clinical features. Besides these characteristics, patient 2 also presents with obesity with hyperinsulinism, which is very likely to be caused by deletion of the <italic>CD36</italic> gene.</p></div></front></TEI><pmc article-type="research-article"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<front><journal-meta><journal-id journal-id-type="nlm-ta">Eur J Hum Genet</journal-id><journal-id journal-id-type="iso-abbrev">Eur. J. Hum. Genet</journal-id><journal-title-group><journal-title>European Journal of Human Genetics</journal-title></journal-title-group><issn pub-type="ppub">1018-4813</issn><issn pub-type="epub">1476-5438</issn><publisher><publisher-name>Nature Publishing Group</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="pmid">25074461</article-id><article-id pub-id-type="pmc">4402620</article-id><article-id pub-id-type="pii">ejhg2014141</article-id><article-id pub-id-type="doi">10.1038/ejhg.2014.141</article-id><article-categories><subj-group subj-group-type="heading"><subject>Article</subject></subj-group></article-categories><title-group><article-title>Genomic aberrations of the <italic>CACNA2D1</italic> gene in three patients with epilepsy and intellectual disability</article-title><alt-title alt-title-type="running">CACNA2D1 aberrations</alt-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Vergult</surname><given-names>Sarah</given-names></name><xref ref-type="aff" rid="aff1">1</xref></contrib><contrib contrib-type="author"><name><surname>Dheedene</surname><given-names>Annelies</given-names></name><xref ref-type="aff" rid="aff1">1</xref></contrib><contrib contrib-type="author"><name><surname>Meurs</surname><given-names>Alfred</given-names></name><xref ref-type="aff" rid="aff2">2</xref></contrib><contrib contrib-type="author"><name><surname>Faes</surname><given-names>Fran</given-names></name><xref ref-type="aff" rid="aff3">3</xref></contrib><contrib contrib-type="author"><name><surname>Isidor</surname><given-names>Bertrand</given-names></name><xref ref-type="aff" rid="aff4">4</xref></contrib><contrib contrib-type="author"><name><surname>Janssens</surname><given-names>Sandra</given-names></name><xref ref-type="aff" rid="aff1">1</xref></contrib><contrib contrib-type="author"><name><surname>Gautier</surname><given-names>Agnès</given-names></name><xref ref-type="aff" rid="aff5">5</xref></contrib><contrib contrib-type="author"><name><surname>Le Caignec</surname><given-names>Cédric</given-names></name><xref ref-type="aff" rid="aff4">4</xref></contrib><contrib contrib-type="author"><name><surname>Menten</surname><given-names>Björn</given-names></name><xref ref-type="aff" rid="aff1">1</xref><xref ref-type="corresp" rid="caf1">*</xref></contrib><aff id="aff1"><label>1</label><institution>Center for Medical Genetics, Ghent University, Ghent University Hospital</institution>, Ghent,<country>Belgium</country></aff><aff id="aff2"><label>2</label><institution>Laboratory for Clinical and Experimental Neurophysiology, Neurobiology and Neuropsychology, Department of Neurology, Ghent University, Ghent University Hospital</institution>, Ghent,<country>Belgium</country></aff><aff id="aff3"><label>3</label><institution>Centrum voor Ontwikkelingsstoornissen (COS), Ghent University Hospital</institution>, Ghent,<country>Belgium</country></aff><aff id="aff4"><label>4</label><institution>Service de Génétique Médicale, Institut de Biologie</institution>, Nantes,<country>France</country></aff><aff id="aff5"><label>5</label><institution>Service de Pédiatrie, CHU</institution>, Nantes,<country>France</country></aff></contrib-group><author-notes><corresp id="caf1"><label>*</label><institution>Center for Medical Genetics, Ghent University, Ghent University Hospital</institution>, De Pintelaan 185, Gent 9000, <country>Belgium</country>. Tel: +32 9 3325284; Fax: +32 9 3326549; E-mail: <email>Bjorn.Menten@Ugent.be</email></corresp></author-notes><pub-date pub-type="ppub"><month>05</month><year>2015</year></pub-date><pub-date pub-type="epub"><day>30</day><month>07</month><year>2014</year></pub-date><volume>23</volume><issue>5</issue><fpage>628</fpage><lpage>632</lpage><history><date date-type="received"><day>04</day><month>12</month><year>2013</year></date><date date-type="rev-recd"><day>13</day><month>06</month><year>2014</year></date><date date-type="accepted"><day>25</day><month>06</month><year>2014</year></date></history><permissions><copyright-statement>Copyright © 2015 Macmillan Publishers Limited</copyright-statement><copyright-year>2015</copyright-year><copyright-holder>Macmillan Publishers Limited</copyright-holder></permissions><abstract><p>Voltage-gated calcium channels have an important role in neurotransmission. Aberrations affecting genes encoding the alpha subunit of these channels have been associated with epilepsy and neuropsychiatric disorders such as autism or schizophrenia. Here we report three patients with a genomic aberration affecting the <italic>CACNA2D1</italic> gene encoding the <italic>α</italic><sub>2</sub><italic>δ</italic> subunit of these voltage-gated calcium channels. All three patients present with epilepsy and intellectual disability pinpointing the <italic>CACNA2D1</italic> gene as an interesting candidate gene for these clinical features. Besides these characteristics, patient 2 also presents with obesity with hyperinsulinism, which is very likely to be caused by deletion of the <italic>CD36</italic> gene.</p></abstract></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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