Journal
JOURNAL OF NEUROLOGY
Volume 259, Issue 5, Pages 906-911Publisher
SPRINGER HEIDELBERG
DOI: 10.1007/s00415-011-6276-6
Keywords
Autosomal recessive cerebellar ataxia; ANO10; Phenotypic features; Gypsy founder mutations
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Funding
- Medical Research Council [G0601943B] Funding Source: researchfish
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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.
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