CLPP基因新变异导致Perrault综合征的致病性鉴定

周凯; 卢宇; 袁慧军; 瞿申红; 陆秋天; 黄兰诚; 林钻平; 唐凤珠

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CLPP基因新变异导致Perrault综合征的致病性鉴定

新生儿听力筛查与耳聋基因筛查 | 更新时间：2026-10-28

- CLPP基因新变异导致Perrault综合征的致病性鉴定
- Pathogenic Identification of Perrault Syndrome Led by Novel Mutations in CLPP Gene
- 中国听力语言康复科学杂志 2021年19卷第3期页码：179-182
- 作者机构：
  
  1. 广西壮族自治区人民医院耳鼻咽喉头颈科
  2. 广西医科大学研究生院
  3. 陆军军医大学第一附属医院医学遗传中心
  4. 四川大学华西医院罕见病研究院,成都,610044
  5. 桂林医学院研究生院
- 作者简介：
- 基金信息：
  
  国家自然科学基金资助项目（82060190）;广西科技厅重点研发项目（桂科AB17292089）;广西医疗卫生适宜技术开发与推广应用项目（S2017 078、S201421_05）;广西卫健委科研课题（Z20170366、Z2016593、Z2014215）
- DOI：
  中图分类号： R764.43;R748
- 纸质出版：2021
- 稿件说明：
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周凯, 卢宇, 袁慧军, 等. CLPP基因新变异导致Perrault综合征的致病性鉴定[J]. 中国听力语言康复科学杂志, 2021,19(3):179-182.

周凯, 卢宇, 袁慧军, et al. Pathogenic Identification of Perrault Syndrome Led by Novel Mutations in CLPP Gene[J]. 2021, 19(3): 179-182.
周凯, 卢宇, 袁慧军, 等. CLPP基因新变异导致Perrault综合征的致病性鉴定[J]. 中国听力语言康复科学杂志, 2021,19(3):179-182. DOI：

周凯, 卢宇, 袁慧军, et al. Pathogenic Identification of Perrault Syndrome Led by Novel Mutations in CLPP Gene[J]. 2021, 19(3): 179-182. DOI：

摘要

目的探讨一个耳聋合并智力障碍的中国家系的致病原因。方法收集该家系的临床表型、听力学及影像学等资料

应用耳聋基因靶向测序和Sanger测序法检测先证者目标基因的变异

并在家系其他成员中进行Sanger测序验证。结果该家系内患病个体男性患者表现为耳聋合并癫痫

运动功能障碍;女性患者表现为耳聋合并智力障碍

四肢肌无力

共济失调以及乳房发育差、月经初潮推迟等生殖系统发育不良表现。测序结果显示该家系中两名同胞患者检出CLPP基因c.661G>T和c.328delA复合杂合变异

先证者父亲检出CLPP基因c.661G>T杂合变异

先证者母亲检出CLPP基因c.328delA杂合变异

CLPP基因c.661G>T和c.328delA变异均为截短突变

此前未见报道

判定为新的致病性变异。结论 CLPP基因c.661G>T和c.328delA复合杂合变异为导致该家系Perrault综合征3型的致病原因

该变异的检出丰富了CLPP基因的突变谱。

Abstract

Objective To explore the cause of diseases in a Chinese family with deafness and mental retardation. Methods The clinical phenotype

audiology

and imaging data of the family were collected

and deafness gene targeted sequencing and Sanger sequencing were used to detect the mutation of the target gene of the proband

and Sanger sequencing was performed in other members of the family to verify. Results The male patients with the disease in this family showed deafness combined with epilepsy

motor dysfunction

and the female patients showed deafness combined with mental retardation

limb muscle weakness

ataxia

poor breast development

delayed menarche and other reproductive system dysplasia. The sequencing results showed that the CLPP gene c.661 G>T and c.328 delA compound heterozygous variants were detected in two siblings of the family

the CLPP gene c.661 G>T heterozygous variant was detected in the proband’s father

and the proband’s mother was detected the CLPP gene c.328 delA heterozygous mutation

the CLPP gene c.661 G>T and c.328 delA mutations are truncated mutations

which have not been reported before

and are judged to be new pathogenic variants. Conclusion CLPP gene c.661 G>T and c.328 delA compound heterozygous mutation are the cause of Perrault syndrome type 3 in this family. The detection of this mutation enriches the mutation spectrum of CLPP gene.

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Keywords

references

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