Usher综合征Ⅰ型家系的MYO7A基因变异分析

严提珍; 黄钧; 袁德健; 唐向荣; 韦笑宝; 罗世强

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Usher综合征Ⅰ型家系的MYO7A基因变异分析

新生儿听力筛查与耳聋基因筛查 | 更新时间：2026-10-28

- Usher综合征Ⅰ型家系的MYO7A基因变异分析
- Analysis of MYO7A Gene Variant in a Usher Syndrome Family
- 中国听力语言康复科学杂志 2021年19卷第3期页码：183-186
- 作者机构：
  
  1. 柳州市妇幼保健院医学遗传科
  2. 柳州市出生缺陷预防与控制重点实验室
  3. 柳州市生殖医学重点实验室
  4. 柳州市妇幼保健院耳鼻喉科听力诊断中心
- 作者简介：
- 基金信息：
  
  广西自然科学资金（2020GXNSFAA297059）
- DOI：
  中图分类号： R725.9
- 纸质出版：2021
- 稿件说明：
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严提珍, 黄钧, 袁德健, 等. Usher综合征Ⅰ型家系的MYO7A基因变异分析[J]. 中国听力语言康复科学杂志, 2021,19(3):183-186.

严提珍, 黄钧, 袁德健, et al. Analysis of MYO7A Gene Variant in a Usher Syndrome Family[J]. 2021, 19(3): 183-186.
严提珍, 黄钧, 袁德健, 等. Usher综合征Ⅰ型家系的MYO7A基因变异分析[J]. 中国听力语言康复科学杂志, 2021,19(3):183-186. DOI：

严提珍, 黄钧, 袁德健, et al. Analysis of MYO7A Gene Variant in a Usher Syndrome Family[J]. 2021, 19(3): 183-186. DOI：

摘要

目的分析一个Usher综合征I型家系的MYO7A基因变异情况

并分析其临床表型与基因型关系。方法对先证者及家系成员进行病史采集、全身体格检查。收集先证者及家系成员的外周血

提取基因组DNA

使用高通量测序技术对先证者、其弟弟及父母进行基因检测

应用Sanger测序对疑似致病变异进行家系验证。结果先证者临床诊断为极重度感音神经性耳聋和视网膜色素变性

其弟弟为耳聋患儿

无视网膜病变

父母及姐妹表型正常。高通量测序及Sanger测序结果显示

先证者携带MYO7Ac.3631-1G>C和c.6049C>T(p.Q2017*)复合杂合变异

其弟弟携带相同的变异位点。先证者父亲、姐姐及妹妹均携带c.3631-1G>C杂合剪接变异

母亲携带c.6049C>T杂合无义变异。氨基酸功能影响预测提示

两种变异均为致病性变异。结论发现了一个新的MYO7A基因变异c.3631-1G>C

丰富了MYO7A基因变异谱

为Usher综合征的遗传咨询提供依据。

Abstract

Objective To analyze the mutation of MYO7 A gene in a family with Usher syndrome type I

and analyze the relationship between its clinical phenotype and genotype. Methods Medical history collection and full physical examination were performed on the proband and family members. With genomic DNA extracted from peripheral blood samples

potential variants in the proband

her brother and parents were detected by next generation sequencing. Suspected variants were validated by Sanger sequencing. Results The proband was clinically diagnosed with extremely severe sensorineural hearing loss and retinitis pigmentosa. Her younger brother was a deaf child without retinopathy

and her parents and sisters had normal phenotypes. Next generation sequencing and Sanger sequencing revealed that the proband has carried compound heterozygous variants of the MYO7 A gene

namely c.3631-1 G>C and c.6049 C>T（p.Q2017*）

and her brother carried the same variant. Her father

elder sister and younger sister carry the c.3631-1 G>C heterozygous splicing variant

and her mother carries the c.6049 C>T heterozygous nonsense variant. The predicted effects of amino acid function suggest that both variants are pathogenic. Conclusion A novel MYO7 A gene mutation c.3631-1 G>C was found

which enriched the MYO7 A gene mutation spectrum and provided a basis for genetic counseling of Usher syndrome.

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references

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