NKX2-1 mutation in a family diagnosed with ataxic dyskinetic cerebral palsy

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dc.contributor.authorMcMichael, G.
dc.contributor.authorHaan, E.
dc.contributor.authorGardner, A.
dc.contributor.authorYap, T.
dc.contributor.authorThompson, S.
dc.contributor.authorOuvrier, R.
dc.contributor.authorDale, R.
dc.contributor.authorGecz, J.
dc.contributor.authorMacLennan, A.
dc.contributor.organisationRobinson Institute
dc.date.issued2013
dc.description.abstractBenign 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.
dc.description.statementofresponsibilityGai McMichael, Eric Haan, Alison Gardner, Tzu Ying Yap, Suzanna Thompson, Robert Ouvrier, Russell C. Dale, Jozef Gecz, Alastair H. MacLennan
dc.identifier.citationEuropean Journal of Medical Genetics, 2013; 56(9):506-509
dc.identifier.doi10.1016/j.ejmg.2013.07.003
dc.identifier.issn1769-7212
dc.identifier.issn1878-0849
dc.identifier.orcidMcMichael, G. [0000-0002-6811-5301]
dc.identifier.orcidHaan, E. [0000-0002-7310-5124]
dc.identifier.orcidGardner, A. [0009-0009-7321-1697]
dc.identifier.orcidThompson, S. [0000-0003-0327-7155]
dc.identifier.orcidGecz, J. [0000-0002-7884-6861]
dc.identifier.urihttp://hdl.handle.net/2440/81037
dc.language.isoen
dc.publisherEditions Scientifiques Medicales Elsevier
dc.rights© 2013 Elsevier Masson SAS.
dc.source.urihttps://doi.org/10.1016/j.ejmg.2013.07.003
dc.subjectAtaxic cerebral palsy
dc.subjectBenign hereditary chorea
dc.subjectDyskinetic cerebral palsy
dc.subjectNKX2-1
dc.titleNKX2-1 mutation in a family diagnosed with ataxic dyskinetic cerebral palsy
dc.typeJournal article
pubs.publication-statusPublished

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