由 PMPCB 基因的新型剪接变异引起的伴有发育倒退和共济失调的 Leigh 综合征。

IF 2.6 3区生物学 Q2 GENETICS & HEREDITY

Journal of Human Genetics Pub Date : 2024-02-19 DOI:10.1038/s10038-024-01226-9

Emma Matthews, Ella F. Whittle, Faraan Khan, Meriel McEntagart, Christopher J. Carroll

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引用次数: 0

摘要

目前仅描述了五名患有致病性 PMPCB 基因变异的儿童，他们均携带错义变异。临床特征包括发育倒退、基底节病变和共济失调（伴或不伴肌张力障碍和癫痫）的莱氏综合征。这五人中有三人死于儿童期，且描述时均未超过六岁。我们报告了 PMPCB 基因中的第一个剪接位点变异，该变异发生在一名 39 岁的患者身上，他在童年患中耳炎后出现了发育倒退和共济失调。微型基因检测证实，该变异导致剪接异常和第 12 号外显子的跳过。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

Leigh syndrome with developmental regression and ataxia due to a novel splicing variant in the PMPCB gene

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Leigh syndrome with developmental regression and ataxia due to a novel splicing variant in the PMPCB gene

Only five children with pathogenic PMPCB gene variants have been described and all carried missense variants. Clinical features included a Leigh-like syndrome of developmental regression, basal ganglia lesions and ataxia with or without dystonia and epilepsy. Three of the five died in childhood and none was older than age six when described. We report the first splice site variant in the PMPCB gene in a 39-year old individual who experienced developmental regression and ataxia following otitis media in childhood. A minigene assay confirms this variant results in aberrant splicing and skipping of exon 12.

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来源期刊

Journal of Human Genetics 生物-遗传学

CiteScore

7.20

自引率

0.00%

发文量

101

审稿时长

4-8 weeks

期刊介绍： The Journal of Human Genetics is an international journal publishing articles on human genetics, including medical genetics and human genome analysis. It covers all aspects of human genetics, including molecular genetics, clinical genetics, behavioral genetics, immunogenetics, pharmacogenomics, population genetics, functional genomics, epigenetics, genetic counseling and gene therapy. Articles on the following areas are especially welcome: genetic factors of monogenic and complex disorders, genome-wide association studies, genetic epidemiology, cancer genetics, personal genomics, genotype-phenotype relationships and genome diversity.