Recurrent MECR R258W causes adult-onset optic atrophy: A case report

IF 1.6 4区医学 Q3 GENETICS & HEREDITY

European journal of medical genetics Pub Date : 2024-02-01 DOI:10.1016/j.ejmg.2024.104917

Nan Jia , Shuiqing Yu , Geng Zhang , Lin Li , Jiawei Wang , Chuntao Lai

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引用次数: 0

Abstract

MECR-related neurologic disorder, also known as mitochondrial enoyl CoA reductase protein-associated neurodegeneration (MEPAN) or dystonia with optic atrophy and basal ganglia abnormalities in childhood (MIM: #617282), is an autosomal recessive inherited disease characterized by a progressive childhood-onset movement disorder and optic atrophy. Here we report a 19-year-old male, presented with progressive visual failure, nystagmus, and right orbital pain, with no history of movement or eye disorder in his childhood. His visual decline started at age 18 years, whereas nystagmus emerged seven months later. Analysis of whole-exome sequencing (WES) revealed a homozygous recurrent variant (NM_016011.5:c.772C > T, p.Arg258Trp) in MECR. These findings suggest phenotypic heterogeneity in MECR-related neurologic disorder, thus, more relevant case screening, will help to delineate the genotype-phenotype correlation of the MECR gene.

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复发性 MECR R258W 会导致成人型视神经萎缩：病例报告

线粒体烯酰辅酶还原酶蛋白相关神经变性（MECR-related neurodegeneration，MEPAN）或儿童期肌张力障碍伴视神经萎缩和基底节异常（MIM: #617282）是一种常染色体隐性遗传疾病，其特征是儿童期发病的进行性运动障碍和视神经萎缩。我们在此报告了一名 19 岁的男性患者，他出现进行性视力衰退、眼球震颤和右眼眶疼痛，童年时没有运动或眼部疾病史。他的视力衰退始于18岁，而眼球震颤则出现在7个月之后。全外显子组测序（WES）分析发现，MECR存在一个同型复发性变异（NM_016011.5:c.772C >T，p.Arg258Trp）。这些发现表明，MECR 相关神经系统疾病具有表型异质性，因此，更多相关病例的筛选将有助于明确 MECR 基因的基因型与表型之间的相关性。

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来源期刊

European journal of medical genetics 医学-遗传学

CiteScore

4.10

自引率

0.00%

发文量

193

审稿时长

66 days

期刊介绍： The European Journal of Medical Genetics (EJMG) is a peer-reviewed journal that publishes articles in English on various aspects of human and medical genetics and of the genetics of experimental models. Original clinical and experimental research articles, short clinical reports, review articles and letters to the editor are welcome on topics such as : • Dysmorphology and syndrome delineation • Molecular genetics and molecular cytogenetics of inherited disorders • Clinical applications of genomics and nextgen sequencing technologies • Syndromal cancer genetics • Behavioral genetics • Community genetics • Fetal pathology and prenatal diagnosis • Genetic counseling.