title: NKX2-1 mutation in a family diagnosed with ataxic dyskinetic cerebral palsy.
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.
authors.affiliation: The Robinson Institute, The University of Adelaide, Adelaide, Australia. Electronic address: gai.mcmichael@adelaide.edu.au.
authors.forename: Gai
authors.initials: G
authors.lastname: McMichael
authors.forename: Eric
authors.initials: E
authors.lastname: Haan
authors.forename: Alison
authors.initials: A
authors.lastname: Gardner
authors.forename: Tzu Ying
authors.initials: TY
authors.lastname: Yap
authors.forename: Suzanna
authors.initials: S
authors.lastname: Thompson
authors.forename: Robert
authors.initials: R
authors.lastname: Ouvrier
authors.forename: Russell C
authors.initials: RC
authors.lastname: Dale
authors.forename: Jozef
authors.initials: J
authors.lastname: Gecz
authors.forename: Alastair H
authors.initials: AH
authors.lastname: Maclennan
mesh_terms: D000595:Amino Acid Sequence; D001259:Ataxia / Q000175:diagnosis / Q000235:genetics*; D002547:Cerebral Palsy / Q000175:diagnosis / Q000235:genetics*; D059472:Exome; D005260:Female; D030342:Genetic Diseases, Inborn / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics*; D010375:Pedigree; D000074482:Thyroid Nuclear Factor 1; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D009687:Nuclear Proteins; D000074482:Thyroid Nuclear Factor 1; D014157:Transcription Factors
keywords: Ataxic cerebral palsy; Benign hereditary chorea; Dyskinetic cerebral palsy; NKX2-1