白质
突变
疾病
外显子组测序
原发性闭经
闭经
医学
生物
遗传学
病理
内分泌学
磁共振成像
基因
放射科
怀孕
作者
Ting Su,Haijun Yuan,Wei Gao,Huaxin Li,Ming Yuan
出处
期刊:PubMed
日期:2022-12-01
卷期号:32 (12): SS181-SS183
标识
DOI:10.29271/jcpsp.2022.supp0.ss181
摘要
Vanishing white matter disease (VWMD) is an autosomal recessive genetic disease characterised by progressive loss of white matter in both cerebral hemispheres. VWMD is caused by mutations in eukaryotic translation initiation factor 2B (EIF2B). The disease typically occurs in children. Ovarioleukodystrophies disease (OLD) is a special type of adult VWMD, associated with primary ovarian insufficiency. Herein, we report an adult woman with VWMD who had a novel EIF2B4 mutation. A 27-year woman presented with complaints of intermittent movement disorder of both upper extremities for 5 years and walking instability for 1 year. She had primary amenorrhea and infertility, low sex hormones, and a primordial uterus. MRI showed progressive loss of white matter in the brain. Whole-exome sequencing showed a novel EIF2B4 gene mutation: c.1441 (exon13) T>C. Therefore, a diagnosis of OLD, a special type of adult VWMD, was established. To our knowledge, this is a novel mutation and has not been reported till date. This report extends the mutation spectrum and phenotypic heterogeneity of VWMD. Key Words: Vanishing White matter, EIF2B, Primary ovarian insufficiency.
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