导致HDR综合征的2例GATA3基因变异的致病性分析

李林珂; 耿佳; 申恬; 钟鸣骏; 熊文羽; 赵海燕; 卢宇; 袁慧军; 刘世喜; 孙艺

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导致HDR综合征的2例GATA3基因变异的致病性分析

新生儿听力筛查与耳聋基因筛查 | 更新时间：2026-10-28

- 导致HDR综合征的2例GATA3基因变异的致病性分析
- Pathogenic Analysis of two GATA3 Variants Underlying HDR Syndrome
- 中国听力语言康复科学杂志 2021年19卷第3期页码：175-178
- 作者机构：
  
  1. 四川大学华西医院耳鼻咽喉头颈外科,成都,610041
  2. 四川大学华西医院罕见病研究院,成都,610044
  3. 陆军军医大学第一附属医院医学遗传中心
  4. 中部战区总医院耳鼻咽喉头颈外科
- 作者简介：
- 基金信息：
- DOI：
  中图分类号： R764.43
- 纸质出版：2021
- 稿件说明：
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李林珂, 耿佳, 申恬, 等. 导致HDR综合征的2例GATA3基因变异的致病性分析[J]. 中国听力语言康复科学杂志, 2021,19(3):175-178.

李林珂, 耿佳, 申恬, et al. Pathogenic Analysis of two GATA3 Variants Underlying HDR Syndrome[J]. 2021, 19(3): 175-178.
李林珂, 耿佳, 申恬, 等. 导致HDR综合征的2例GATA3基因变异的致病性分析[J]. 中国听力语言康复科学杂志, 2021,19(3):175-178. DOI：

李林珂, 耿佳, 申恬, et al. Pathogenic Analysis of two GATA3 Variants Underlying HDR Syndrome[J]. 2021, 19(3): 175-178. DOI：

摘要

目的分析两个HDR综合征家系的临床特征及致病基因鉴定。方法对两家系成员进行病史、临床信息采集

应用高通量测序和生物信息学分析进行致病基因鉴定。结果在2个家系中仅表现为感音神经性耳聋的先证者的GATA3基因发现两个新发位点

分别为c.186dup（p.Tyr63Leufs*240）和c.835

36dup（p.Gly280Argfs*15）

根据美国医学遗传学与基因组学学会遗传性听力损失判读指南显示

这两突变分别为先证者的致病变异。结论 GATA3基因为这两先证者的致病基因

c.186dup（p.Tyr63Leufs*240）和c.835

36dup（p.Gly280Argfs*15）进一步完善了GATA3基因的突变谱。对仅表现感音神经性耳聋的患者

应重视部分表型不完全外显的综合征型耳聋。

Abstract

Objective To report clinical characteristics and identify the causative genes in two pedigree of HDR syndrome. Methods Medical history and clinical information were collected from members of two families. Causative genes were identified by high thorough-put sequencing and bioinformatics analysis. Results Two novel variants of GATA3 gene were detected in the probands showing only sensorineural deafness in two families

c.186 dup（p.Tyr63 Leufs*240） and c.835

36 dup（p.Gly280 Argfs*15）

respectively. According to the American College of Medical Genetics and Genomics Guidelines for the Interpretation of Hereditary Hearing Loss

the two variants were identified to be pathogenic variants in the two families. Co

nclusion This study demonstrated that the novel variants c.186 dup（p.Tyr63 Leufs*240） and c.835

36 dup（p.Gly280 Argfs*15） in the GATA3 gene are the main cause in the two probands respectively

and expand the mutational spectrum of GATA3. It’s suggested that syndromic hearing loss with incomplete penetrance of partial phenotypes should not be neglected in patients presenting only sensorineural deafness.

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