Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/80377
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dc.contributor.authorMcMichael, G.en
dc.contributor.authorGirirajan, S.en
dc.contributor.authorMoreno-De-Luca, A.en
dc.contributor.authorGecz, J.en
dc.contributor.authorShard, C.en
dc.contributor.authorNguyen, L.en
dc.contributor.authorNicholl, J.en
dc.contributor.authorGibson, C.en
dc.contributor.authorHaan, E.en
dc.contributor.authorEichler, E.en
dc.contributor.authorMartin, C.en
dc.contributor.authorMacLennan, A.en
dc.date.issued2013en
dc.identifier.citationEuropean Journal of Human Genetics, 2013; 22(1):40-45en
dc.identifier.issn1018-4813en
dc.identifier.issn1476-5438en
dc.identifier.urihttp://hdl.handle.net/2440/80377-
dc.descriptionAs per publisher: published online 22 May 2013en
dc.description.abstractRecent studies have established the role of rare copy number variants (CNVs) in several neurological disorders but the contribution of rare CNVs to cerebral palsy (CP) is not known. Fifty Caucasian families having children with CP were studied using two microarray designs. Potentially pathogenic, rare (<1% population frequency) CNVs were identified, and their frequency determined, by comparing the CNVs found in cases with 8329 adult controls with no known neurological disorders. Ten of the 50 cases (20%) had rare CNVs of potential relevance to CP; there were a total of 14 CNVs, which were observed in <0.1% (<8/8329) of the control population. Eight inherited from an unaffected mother: a 751-kb deletion including FSCB, a 1.5-Mb duplication of 7q21.13, a 534-kb duplication of 15q11.2, a 446-kb duplication including CTNND2, a 219-kb duplication including MCPH1, a 169-kb duplication of 22q13.33, a 64-kb duplication of MC2R, and a 135-bp exonic deletion of SLC06A1. Three inherited from an unaffected father: a 386-kb deletion of 12p12.2-p12.1, a 234-kb duplication of 10q26.13, and a 4-kb exonic deletion of COPS3. The inheritance was unknown for three CNVs: a 157-bp exonic deletion of ACOX1, a 693-kb duplication of 17q25.3, and a 265-kb duplication of DAAM1. This is the first systematic study of CNVs in CP, and although it did not identify de novo mutations, has shown inherited, rare CNVs involving potentially pathogenic genes and pathways requiring further investigation.en
dc.description.statementofresponsibilityGai McMichael, Santhosh Girirajan, Andres Moreno-De-Luca, Jozef Gecz, Chloe Shard, Lam Son Nguyen, Jillian Nicholl, Catherine Gibson, Eric Haan, Evan Eichler, Christa Lese Martin and Alastair MacLennanen
dc.language.isoenen
dc.publisherNature Publishing Groupen
dc.rights© 2013 Macmillan Publishers Limited; All rights reserveden
dc.subjectcopy number; cerebral palsy; microarrayen
dc.titleRare copy number variation in cerebral palsyen
dc.typeJournal articleen
dc.identifier.rmid0020131603en
dc.identifier.doi10.1038/ejhg.2013.93en
dc.identifier.pubid18118-
pubs.verification-statusVerifieden
pubs.publication-statusPublisheden
dc.identifier.orcidMcMichael, G. [0000-0002-6811-5301]en
dc.identifier.orcidGecz, J. [0000-0002-7884-6861]en
dc.identifier.orcidHaan, E. [0000-0002-7310-5124]en
Appears in Collections:Obstetrics and Gynaecology publications
Cerebral Palsy Research Group publications

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