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Type: Journal article
Title: NKX2-1 mutation in a family diagnosed with ataxic dyskinetic cerebral palsy
Author: McMichael, G.
Haan, E.
Gardner, A.
Yap, T.
Thompson, S.
Ouvrier, R.
Dale, R.
Gecz, J.
MacLennan, A.
Citation: European Journal of Medical Genetics, 2013; 56(9):506-509
Publisher: Editions Scientifiques Medicales Elsevier
Issue Date: 2013
ISSN: 1769-7212
Organisation: Robinson Institute
Statement of
Gai McMichael, Eric Haan, Alison Gardner, Tzu Ying Yap, Suzanna Thompson, Robert Ouvrier, Russell C. Dale, Jozef Gecz, Alastair H. MacLennan
Abstract: Benign hereditary chorea caused by mutations in the NK2 homeobox 1 gene (NKX2-1), shares clinical features with ataxic and dyskinetic cerebral palsy (CP), resulting in the possibility of misdiagnosis. A father and his two children were considered to have ataxic CP until a possible diagnosis of benign familial chorea was made in the children in early teenage. The father's neurological condition had not been appreciated prior to examination of the affected son. Whole exome sequencing of blood derived DNA and bioinformatics analysis were performed. A 7 bp deletion in exon 1 of NKX2-1, resulting in a frame shift and creation of a premature termination codon, was identified in all affected individuals. Screening of 60 unrelated individuals with a diagnosis of dyskinetic or ataxic CP did not identify NKX2-1 mutations. BHC can be confused with ataxic and dyskinetic CP. Occasionally these children have a mutation in NKX2-1.
Keywords: Ataxic cerebral palsy
Benign hereditary chorea
Dyskinetic cerebral palsy
Rights: © 2013 Elsevier Masson SAS.
DOI: 10.1016/j.ejmg.2013.07.003
Appears in Collections:Aurora harvest 4
Cerebral Palsy Research Group publications

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