RGD Reference Report - NKX2-1 mutation in a family diagnosed with ataxic dyskinetic cerebral palsy. - Rat Genome Database

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

Authors: McMichael, Gai  Haan, Eric  Gardner, Alison  Yap, Tzu Ying  Thompson, Suzanna  Ouvrier, Robert  Dale, Russell C  Gecz, Jozef  Maclennan, Alastair H 
Citation: McMichael G, etal., Eur J Med Genet. 2013 Sep;56(9):506-9. doi: 10.1016/j.ejmg.2013.07.003. Epub 2013 Jul 30.
RGD ID: 12914768
Pubmed: (View Article at PubMed) PMID:23911641
DOI: Full-text: DOI:10.1016/j.ejmg.2013.07.003

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.


Disease Annotations    

Objects Annotated

Genes (Rattus norvegicus)
Nkx2-1  (NK2 homeobox 1)

Genes (Mus musculus)
Nkx2-1  (NK2 homeobox 1)

Genes (Homo sapiens)
NKX2-1  (NK2 homeobox 1)

Additional Information