Rare copy number variation in cerebral palsy

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dc.contributor.authorMcMichael, G.
dc.contributor.authorGirirajan, S.
dc.contributor.authorMoreno-De-Luca, A.
dc.contributor.authorGecz, J.
dc.contributor.authorShard, C.
dc.contributor.authorNguyen, L.
dc.contributor.authorNicholl, J.
dc.contributor.authorGibson, C.
dc.contributor.authorHaan, E.
dc.contributor.authorEichler, E.
dc.contributor.authorMartin, C.
dc.contributor.authorMacLennan, A.
dc.date.issued2013
dc.descriptionAs per publisher: published online 22 May 2013
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.
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 MacLennan
dc.identifier.citationEuropean Journal of Human Genetics, 2013; 22(1):40-45
dc.identifier.doi10.1038/ejhg.2013.93
dc.identifier.issn1018-4813
dc.identifier.issn1476-5438
dc.identifier.orcidMcMichael, G. [0000-0002-6811-5301]
dc.identifier.orcidGecz, J. [0000-0002-7884-6861]
dc.identifier.orcidHaan, E. [0000-0002-7310-5124]
dc.identifier.urihttp://hdl.handle.net/2440/80377
dc.language.isoen
dc.publisherNature Publishing Group
dc.rights© 2013 Macmillan Publishers Limited; All rights reserved
dc.source.urihttps://doi.org/10.1038/ejhg.2013.93
dc.subjectcopy number
dc.subjectcerebral palsy
dc.subjectmicroarray
dc.titleRare copy number variation in cerebral palsy
dc.typeJournal article
pubs.publication-statusPublished

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