Rudenskaya G E, Shchagina O A, Ampleeva M A, Konovalov F A
Research Centre for Medical Genetics, Moscow, Russia.
Genomed Ltd, Moscow, Russia.
Zh Nevrol Psikhiatr Im S S Korsakova. 2019;119(6):101-106. doi: 10.17116/jnevro2019119061101.
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.
作者报告了一例独特的共济失调毛细血管扩张症（AT）家族病例，该病例在一名3岁男孩（自1.5岁起出现共济失调和中度运动障碍）及其31岁母亲（自10岁起出现轻度肌张力障碍，主要为斜颈）中呈现出类似常染色体显性遗传的不同表型。对该男孩进行外显子组测序检测到两个杂合的ATM突变，即之前报道过的c.1564_1565delGA（p.Glu522fs）和c.6154G>A（p.Glu2052Lys）。桑格测序发现该儿童存在这两种突变，父亲为c.1564_1565delGA杂合子，母亲为之前在罕见的“单纯”局部肌张力障碍A-T表型中报道过的6154G>A杂合子。对自认为健康的母亲进行外显子组测序，在第51内含子中检测到等位基因ATM突变c.7630-2A>C。
