A Novel Missense Mutation in TWNK Gene Causing Perrault Syndrome Type 5 in a Chinese Family and Review of the Literature.

Pharmacogenomics and Personalized Medicine Pub Date : 2022-01-08 eCollection Date: 2022-01-01 DOI:10.2147/PGPM.S341172

Lan Wei, Ling Hou, Yan-Qin Ying, Xiao-Ping Luo

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引用次数: 1

Abstract

Background: Perrault syndrome (PRLTS) is a rare autosomal recessive disorder characterized by sensorineural hearing loss in both sexes and ovarian dysfunction in females. In some cases, patients present with a diversity of neurological signs. Six genes are known to cause Perrault syndrome.

Case report: We report an 11-year-old Chinese girl with delayed gonadal development, sensorineural hearing loss, and neurologic manifestations. Genetic etiology was identified by whole-exome sequencing and confirmed via Sanger sequencing. Compound heterozygous variants with one novel variant c.1752C>A (p.D584E) and one known pathogenic variant c.1172G>A (p.R391H) in TWNK were discovered in the child and inherited from her parents, respectively.

Conclusion: The compound heterozygous variants c.1172G>A (p.R391H) and c.1752C>A (p.D584E) of the TWNK gene probably underlie PRLTS type 5 (PRLTS5). This study expands the mutation spectrum of TWNK pathogenicity in the PRLTS5 phenotype.

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中国某家族致5型佩诺特综合征的TWNK基因新错义突变及文献综述。

背景:Perrault综合征(PRLTS)是一种罕见的常染色体隐性遗传病，以两性感音神经性听力损失和女性卵巢功能障碍为特征。在某些情况下，患者表现出多种神经学症状。已知有六种基因会导致佩诺特综合症。病例报告:我们报告一名11岁的中国女孩，性腺发育迟缓，感觉神经性听力损失和神经系统表现。通过全外显子组测序确定遗传病因，并通过Sanger测序确认。在该儿童中发现了一种新变异c.1752C>A (p.D584E)和一种已知致病变异c.1172G>A (p.R391H)的复合杂合变异体，分别遗传自其父母。结论:TWNK基因c.1172G>A (p.R391H)和c.1752C>A (p.D584E)复合杂合变异体可能是PRLTS5型(PRLTS5)的基础。本研究扩大了PRLTS5表型中TWNK致病性的突变谱。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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Pharmacogenomics and Personalized Medicine

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