小头畸形
医学
张力减退
共济失调
先证者
全球发育迟缓
脑瘫
外显子组测序
神经发育障碍
儿科
智力残疾
错义突变
萎缩
病理
遗传学
精神科
突变
基因
自闭症
生物
表型
作者
Kadri Karaer,Derya Karaer,Zafer Yüksel,Sedat Işıkay
标识
DOI:10.1097/mcd.0000000000000426
摘要
Neurodevelopmental disorder with microcephaly, ataxia, and seizures (NEDMAS) syndrome is a rare neurodevelopmental disorder characterized by moderate intellectual disability (ID), thin body habitus, microcephaly, seizures, ataxia, muscle weakness, and speech impairment. So far, only two families with NEDMAS have been reported. We report the clinical and molecular characteristics of three unrelated Turkish families with four NEDMAS patients. Whole-exome sequencing was used to search for the disease-causing variant. The main manifestations of the probands are severe developmental delay and ID, thin body habitus, and severe hypotonia. Brain imaging revealed bilateral cerebral and cerebellar diffuse atrophy. Sequencing results showed that both patients carried a novel missense variant c.1196C>T (p.Thr399Met) in the seryl-tRNA synthetase gene. Our findings help expand the variant spectrum of NEDMAS and provide additional information for diagnosing cases with atypical features.
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