[Ataxia-telangiectasia with rare phenotype and unusual pedigree]

The authors present an unique familial case of ataxia-telangiectasia (AT) mimicking autosomal dominant inheritance with different phenotypes in a 3-year-old boy (ataxia and moderate dyskinesia since 1.5 years) and his 31-year-old mother (mild dystonia, predominantly torticollis, since 10 years). Exome sequencing of the boy detected two heterozygous ATM mutations c.1564_1565delGA (p.Glu522fs) and c.6154G>A (p.Glu2052Lys) reported earlier. Sanger sequencing found both mutations in the child, the father was heterozygous for c.1564_1565delGA, the mother for 6154G>A earlier reported in the rare A-T phenotype of 'pure' local dystonia. Exome sequencing of the mother, who considered herself healthy, detected the allelic ATM mutation c.7630-2A>C in intron 51.