ANO10 c.1150_1151del is a founder mutation causing autosomal recessive cerebellar ataxia in Roma/Gypsies.
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.
Clinic of Neurology, University Hospital Alexandrovska, Sofia, Bulgaria.
Teodora
T
Chamova
Laura
L
Florez
Velina
V
Guergueltcheva
Margarita
M
Raycheva
Radka
R
Kaneva
Hanns
H
Lochmüller
Luba
L
Kalaydjieva
Ivailo
I
Tournev
D000328:Adult; D001921:Brain / Q000473:pathology; D002031:Bulgaria; D002524:Cerebellar Ataxia / Q000175:diagnosis / Q000235:genetics*; D018118:Chloride Channels / Q000235:genetics*; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D005838:Genotype; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008609:Mental Status Schedule; D009460:Neurologic Examination; D010641:Phenotype; D006178:Romani People / Q000235:genetics; D017384:Sequence Deletion / Q000235:genetics*; D018709:Statistics, Nonparametric
D018118:Chloride Channels