Article
Mutations in DNMT1 cause autosomal dominant cerebellar ataxia, deafness and narcolepsy.
Human molecular genetics - 15 May 2012
Winkelmann Juliane, Lin Ling, Schormair Barbara, Kornum Birgitte R, Faraco Juliette, Plazzi Giuseppe, Melberg Atle, Cornelio Ferdinando, Urban Alexander E, Pizza Fabio, Poli Francesca, Grubert Fabian, Wieland Thomas, Graf Elisabeth, Hallmayer Joachim, Strom Tim M, Mignot Emmanuel
Abstract excerpt
Autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN) is characterized by late onset (30-40 years old) cerebellar ataxia, sensory neuronal deafness, narcolepsy-cataplexy and dementia. We performed exome sequencing in five individuals from three ADCA-DN kindreds and identified DNMT1 as the only gene with mutations found in all five affected individuals. Sanger sequencing confirmed the de novo...
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