Source:http://linkedlifedata.com/resource/pubmed/id/21055719
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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
5
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| pubmed:dateCreated |
2010-11-12
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| pubmed:abstractText |
Autism spectrum disorders (ASD) and schizophrenia are neurodevelopmental disorders for which recent evidence indicates an important etiologic role for rare copy number variants (CNVs) and suggests common genetic mechanisms. We performed cytogenomic array analysis in a discovery sample of patients with neurodevelopmental disorders referred for clinical testing. We detected a recurrent 1.4 Mb deletion at 17q12, which harbors HNF1B, the gene responsible for renal cysts and diabetes syndrome (RCAD), in 18/15,749 patients, including several with ASD, but 0/4,519 controls. We identified additional shared phenotypic features among nine patients available for clinical assessment, including macrocephaly, characteristic facial features, renal anomalies, and neurocognitive impairments. In a large follow-up sample, the same deletion was identified in 2/1,182 ASD/neurocognitive impairment and in 4/6,340 schizophrenia patients, but in 0/47,929 controls (corrected p = 7.37 × 10??). These data demonstrate that deletion 17q12 is a recurrent, pathogenic CNV that confers a very high risk for ASD and schizophrenia and show that one or more of the 15 genes in the deleted interval is dosage sensitive and essential for normal brain development and function. In addition, the phenotypic features of patients with this CNV are consistent with a contiguous gene syndrome that extends beyond RCAD, which is caused by HNF1B mutations only.
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| pubmed:grant | |
| pubmed:commentsCorrections | |
| pubmed:language |
eng
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| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:status |
MEDLINE
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| pubmed:month |
Nov
|
| pubmed:issn |
1537-6605
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| pubmed:author |
pubmed-author:AckleyToddT,
pubmed-author:AdamMargaret PMP,
pubmed-author:AradhyaSwaroopS,
pubmed-author:AstonEmilyE,
pubmed-author:BarberJohn CJC,
pubmed-author:BoniCharlotteC,
pubmed-author:BrothmanArthur RAR,
pubmed-author:CareMelanie EME,
pubmed-author:ChandrareddyAshadeepA,
pubmed-author:ChowEva W CEW,
pubmed-author:CrollaJohn AJA,
pubmed-author:DemmerLaurie ALA,
pubmed-author:EisenhauerNancy JNJ,
pubmed-author:GeneSTAR,
pubmed-author:GliemTroy JTJ,
pubmed-author:GoldenDenae MDM,
pubmed-author:HuangShuwenS,
pubmed-author:IyerRamR,
pubmed-author:KaminskyErin BEB,
pubmed-author:LedbetterDavid HDH,
pubmed-author:ManzV JVJ,
pubmed-author:MartinChrista LCL,
pubmed-author:MorelChantal FCF,
pubmed-author:Moreno-De-LucaDanielD,
pubmed-author:MulleJennifer GJG,
pubmed-author:MyersScott MSM,
pubmed-author:PakulaAmy TAT,
pubmed-author:PickeringDiane LDL,
pubmed-author:SGENE Consortium,
pubmed-author:SalbertBonnie AnneBA,
pubmed-author:SandersStephan JSJ,
pubmed-author:SangerWarren GWG,
pubmed-author:Simons Simplex Collection Genetics Consortium,
pubmed-author:SurtiUrvashiU,
pubmed-author:ThorlandErik CEC,
pubmed-author:UhasKimK,
pubmed-author:WarrenStephen TST,
pubmed-author:WeikLuAnnL
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| pubmed:copyrightInfo |
Copyright © 2010 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.
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| pubmed:issnType |
Electronic
|
| pubmed:day |
12
|
| pubmed:volume |
87
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
618-30
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| pubmed:dateRevised |
2011-2-2
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| pubmed:meshHeading |
pubmed-meshheading:21055719-Child,
pubmed-meshheading:21055719-Child, Preschool,
pubmed-meshheading:21055719-Child Development Disorders, Pervasive,
pubmed-meshheading:21055719-Chromosomes, Human, Pair 17,
pubmed-meshheading:21055719-DNA Copy Number Variations,
pubmed-meshheading:21055719-Facies,
pubmed-meshheading:21055719-Female,
pubmed-meshheading:21055719-Humans,
pubmed-meshheading:21055719-Male,
pubmed-meshheading:21055719-Phenotype,
pubmed-meshheading:21055719-Schizophrenia,
pubmed-meshheading:21055719-Sequence Deletion
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| pubmed:year |
2010
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| pubmed:articleTitle |
Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia.
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| pubmed:affiliation |
Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA. daniel.morenodeluca@emory.edu
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| pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't,
Research Support, N.I.H., Extramural
|