Delineating the 15q13.3 microdeletion phenotype: a case series and comprehensive review of the literature
Identifieur interne : 000B06 ( Main/Merge ); précédent : 000B05; suivant : 000B07Delineating the 15q13.3 microdeletion phenotype: a case series and comprehensive review of the literature
Auteurs : Chelsea Lowther [Canada] ; Gregory Costain [Canada] ; Dimitri J. Stavropoulos [Canada] ; Rebecca Melvin [Canada] ; Candice K. Silversides [Canada] ; Danielle M. Andrade [Canada] ; Joyce So [Canada] ; Hanna Faghfoury [Canada] ; Anath C. Lionel [Canada] ; Christian R. Marshall [Canada] ; Stephen W. Scherer [Canada] ; Anne S. Bassett [Canada]Source :
- Genetics in medicine : official journal of the American College of Medical Genetics [ 1098-3600 ] ; 2014.
Abstract
Recurrent 15q13.3 deletions are enriched in multiple neurodevelopmental conditions including intellectual disability, autism, epilepsy, and schizophrenia. However, the 15q13.3 microdeletion syndrome remains ill-defined.
We systematically compiled all cases of 15q13.3 deletion published before 2014. We also examined three locally available cohorts to identify new adults with 15q13.3 deletions.
We identified a total of 246 cases (133 children, 113 adults) with deletions overlapping or within the 15q13.3 (breakpoint (BP)4–BP5) region, including seven novel adult cases from local cohorts. No BP4–BP5 deletions were identified in 23,838 adult controls. Where known, 15q13.3 deletions were typically inherited (85.4%) and disproportionately of maternal origin (
The 15q13.3 microdeletion syndrome is predominantly characterized by neuropsychiatric expression. There are implications for pre- and postnatal detection, genetic counseling, and anticipatory care.
Url:
DOI: 10.1038/gim.2014.83
PubMed: 25077648
PubMed Central: 4464824
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PMC:4464824Le document en format XML
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Delineating the 15q13.3 microdeletion phenotype: a case series and comprehensive review of the literature</title>
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</affiliation>
<affiliation wicri:level="1"><nlm:aff id="A11">The Centre for Applied Genomics and Program in Genomics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>The Centre for Applied Genomics and Program in Genomics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario</wicri:regionArea>
<wicri:noRegion>Ontario</wicri:noRegion>
</affiliation>
<affiliation wicri:level="4"><nlm:aff id="A12">Department of Molecular Genetics and McLaughlin Centre, University of Toronto, Toronto, Ontario, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Department of Molecular Genetics and McLaughlin Centre, University of Toronto, Toronto, Ontario</wicri:regionArea>
<orgName type="university">Université de Toronto</orgName>
<placeName><settlement type="city">Toronto</settlement>
<region type="state">Ontario</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Bassett, Anne S" sort="Bassett, Anne S" uniqKey="Bassett A" first="Anne S." last="Bassett">Anne S. Bassett</name>
<affiliation wicri:level="1"><nlm:aff id="A1">Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, Ontario, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, Ontario</wicri:regionArea>
<wicri:noRegion>Ontario</wicri:noRegion>
</affiliation>
<affiliation wicri:level="4"><nlm:aff id="A2">Institute of Medical Science, Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Institute of Medical Science, Faculty of Medicine, University of Toronto, Toronto, Ontario</wicri:regionArea>
<orgName type="university">Université de Toronto</orgName>
<placeName><settlement type="city">Toronto</settlement>
<region type="state">Ontario</region>
</placeName>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="A5">Division of Cardiology, Department of Medicine, University Health Network, Toronto, Ontario, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Division of Cardiology, Department of Medicine, University Health Network, Toronto, Ontario</wicri:regionArea>
<wicri:noRegion>Ontario</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="A13">Department of Psychiatry, University of Toronto and University Health Network, Toronto, Ontario, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Department of Psychiatry, University of Toronto and University Health Network, Toronto, Ontario</wicri:regionArea>
<wicri:noRegion>Ontario</wicri:noRegion>
</affiliation>
</author>
</analytic>
<series><title level="j">Genetics in medicine : official journal of the American College of Medical Genetics</title>
<idno type="ISSN">1098-3600</idno>
<idno type="eISSN">1530-0366</idno>
<imprint><date when="2014">2014</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass></textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en"><sec id="S1"><title>Purpose</title>
<p id="P1">Recurrent 15q13.3 deletions are enriched in multiple neurodevelopmental conditions including intellectual disability, autism, epilepsy, and schizophrenia. However, the 15q13.3 microdeletion syndrome remains ill-defined.</p>
</sec>
<sec id="S2"><title>Methods</title>
<p id="P2">We systematically compiled all cases of 15q13.3 deletion published before 2014. We also examined three locally available cohorts to identify new adults with 15q13.3 deletions.</p>
</sec>
<sec id="S3"><title>Results</title>
<p id="P3">We identified a total of 246 cases (133 children, 113 adults) with deletions overlapping or within the 15q13.3 (breakpoint (BP)4–BP5) region, including seven novel adult cases from local cohorts. No BP4–BP5 deletions were identified in 23,838 adult controls. Where known, 15q13.3 deletions were typically inherited (85.4%) and disproportionately of maternal origin (<italic>P</italic>
< 0.0001). Overall, 198 cases (121 children, 77 adults; 80.5%) had at least one neuropsychiatric diagnosis. Accounting for ascertainment, developmental disability/intellectual disability was present in 57.7%, epilepsy/seizures in 28.0%, speech problems in 15.9%, autism spectrum disorder in 10.9%, schizophrenia in 10.2%, mood disorder in 10.2%, and attention deficit hyperactivity disorder in 6.5%. By contrast, major congenital malformations, including congenital heart disease (2.4%), were uncommon. Placenta previa occurred in the pregnancies of four cases.</p>
</sec>
<sec id="S4"><title>Conclusion</title>
<p id="P4">The 15q13.3 microdeletion syndrome is predominantly characterized by neuropsychiatric expression. There are implications for pre- and postnatal detection, genetic counseling, and anticipatory care.</p>
</sec>
</div>
</front>
</TEI>
</record>
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