Article
Homozygous THAP1 mutations as cause of early-onset generalized dystonia.
Movement disorders : official journal of the Movement Disorder Society - 1 Apr 2011
Schneider Susanne A, Ramirez Alfredo, Shafiee Kaveh, Kaiser Frank J, Erogullari Alev, Brüggemann Norbert, Winkler Susen, Bahman Ideh, Osmanovic Alma, Shafa Mohammad A, Bhatia Kailish P, Najmabadi Hossein, Klein Christine, Lohmann Katja
Abstract excerpt
To identify the underlying genetic cause in a consanguineous family with apparently recessively inherited dystonia, we performed genome-wide homozygosity mapping. This revealed 2 candidate regions including the THAP1 gene, where heterozygous mutations cause dystonia 6. A homozygous missense mutation in THAP1 (c.95T>A; p.Leu32His) was found in all 3 affected siblings. Symptoms started in childhood in the legs and...
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