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- Title
ANO10 c.1150_1151del is a founder mutation causing autosomal recessive cerebellar ataxia in Roma/Gypsies.
- Authors
Chamova, Teodora; Florez, Laura; Guergueltcheva, Velina; Raycheva, Margarita; Kaneva, Radka; Lochmüller, Hanns; Kalaydjieva, Luba; Tournev, Ivailo
- Abstract
A recent report (Vermeer et al. in Am J Hum Genet 87:813-819, ) implicated for the first time the ANO10 gene in the genetic basis of autosomal recessive cerebellar ataxias. One of the three described families were Roma/Gypsies from Serbia, where the affected individuals were homozygous for the truncating p .Leu384fs mutation and displayed distinct phenotypic features (Vermeer et al. in Am J Hum Genet 87:813-819, ). Based on the history and population genetics of the Roma/Gypsies, we hypothesised that p .Leu384fs could be another founder mutation in this population, whose identification in a larger number of genetically homogeneous patients will contribute to defining the phenotypic spectrum of the disorder. Here, we describe additional patients from neighbouring Bulgaria, outlining invariable ANO10-ataxia features and confirming global intellectual decline as part of the phenotype resulting from complete Anactomin 10 deficit.
- Subjects
SOFIA (Bulgaria); BULGARIA; CEREBELLAR ataxia; HEALTH of Romanies; GENETIC mutation; HUMAN population genetics; PHENOTYPES
- Publication
Journal of Neurology, 2012, Vol 259, Issue 5, p906
- ISSN
0340-5354
- Publication type
Article
- DOI
10.1007/s00415-011-6276-6