Ontology highlight
ABSTRACT:
SUBMITTER: Winkelmann J
PROVIDER: S-EPMC3465691 | biostudies-literature | 2012 May
REPOSITORIES: biostudies-literature
Winkelmann Juliane J Lin Ling L Schormair Barbara B Kornum Birgitte R BR Faraco Juliette J Plazzi Giuseppe G Melberg Atle A Cornelio Ferdinando F Urban Alexander E AE Pizza Fabio F Poli Francesca F Grubert Fabian F Wieland Thomas T Graf Elisabeth E Hallmayer Joachim J Strom Tim M TM Mignot Emmanuel E
Human molecular genetics 20120209 10
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 mutation p.Ala570Val in one family, and showed co-segregation of p.Val606Phe and p.Ala5 ...[more]