Erschienen in:
01.05.2012 | Original Communication
ANO10 c.1150_1151del is a founder mutation causing autosomal recessive cerebellar ataxia in Roma/Gypsies
verfasst von:
Teodora Chamova, Laura Florez, Velina Guergueltcheva, Margarita Raycheva, Radka Kaneva, Hanns Lochmüller, Luba Kalaydjieva, Ivailo Tournev
Erschienen in:
Journal of Neurology
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Ausgabe 5/2012
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Abstract
A recent report (Vermeer et al. in Am J Hum Genet 87:813–819,
2010) 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,
2010). 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.