两名具有非典型瑞特综合征症状患者中的新型突变c.1162_1172del；p.Pro388*
Novel Mutation c.1162_1172del; p.Pro388* in Two Patients with Symptoms of Atypical Rett Syndrome.
作者信息
Bernstein Ulrike, Demuth Stephanie, Puk Oliver, Eichhorn Birgit, Schulz Solveig
机构信息
Center of Human Genetics, Jena University Hospital, Jena, Germany.
MVZ Human Genetics, Erfurt, Germany.
出版信息
Mol Syndromol. 2019 Jul;10(4):223-228. doi: 10.1159/000501183. Epub 2019 Jul 2.
Abstract
We report 2 cases of girls with gene variants who do not have typical clinical features of Rett syndrome except for intellectual disability and seizures. Both patients present with adipositas, macrocephalia, precocious puberty, and seizures. They have prominent eyebrows and a short neck as well as short and plump fingers. Sequencing by NGS revealed a novel variant c.1162_1172del; p.Pro388* in both patients.
摘要
我们报告了2例携带基因变异的女孩，她们除了智力残疾和癫痫外，没有雷特综合征的典型临床特征。两名患者均表现为肥胖、巨头畸形、性早熟和癫痫。她们眉突出、颈部短，手指短而粗。二代测序显示两名患者均有一个新的变异c.1162_1172del；p.Pro388*。
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