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.
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We thank the family members and controls participating in this study.
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T. Chamova, L. Florez, L. Kalaydjieva and I. Tournev have equal contributions to the work.
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Chamova, T., Florez, L., Guergueltcheva, V. et al. ANO10 c.1150_1151del is a founder mutation causing autosomal recessive cerebellar ataxia in Roma/Gypsies. J Neurol 259, 906–911 (2012). https://doi.org/10.1007/s00415-011-6276-6
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DOI: https://doi.org/10.1007/s00415-011-6276-6