Analysis of MYO7A gene mutation in a family with non-syndromic autosomal recessive deafness
10.3760/cma.j.issn.1003-9406.2019.10.004
- VernacularTitle: 一个常染色体隐性遗传非综合征遗传性耳聋家系的MYO7A基因突变分析
- Author:
Shengran WANG
1
;
Litao QIN
2
;
Keyue DING
2
;
Bingtao HAO
2
;
Shasha BIAN
2
;
Zhaokun WANG
2
;
Qingqing WANG
2
;
Xin WANG
2
;
Weihua ZHANG
3
;
Shixiu LIAO
2
Author Information
1. People’s Hospital of Zhengzhou University, Zhengzhou, Henan 450000, China
2. Henan Provincial Key Laboratory of Genetic Diseases and Functional Genomics, Medical Genetics Institute of Henan Province, Henan Provincial People’s Hospital, Zhengzhou, Henan 450000 China
3. Department of Obstetrics and Gynecology, Henan Provincial People’s Hospital, Zhengzhou, Henan, 450000 China
- Publication Type:Journal Article
- Keywords:
Non-syndromic deafness;
Autosomal recessive inheritance;
MYO7A gene;
Mutation
- From:
Chinese Journal of Medical Genetics
2019;36(10):965-969
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To explore the genetic basis for a family with non-syndromic autosomal recessive deafness.
Methods:The proband and her parents were subjected to physical and audiological examinations. With genomic DNA extracted from peripheral blood samples, next-generation sequencing was carried out using a panel for deafness genes. Suspected mutation was validated by Sanger sequencing and qPCR analysis of her parents.
Results:The proband presented bilateral severe sensorineural hearing loss at three days after birth. Her auditory threshold was 110-120 dBnHL but with absence of vestibular and retinal symptoms. Her brother also had deafness but her parents were normal. No abnormality was found upon physical examination of her family members, while audiological examination showed no middle ear or retrocochlear diseases. Next-generation sequencing identified compound heterozygous mutations of the MYO7A gene, including a previously known c. 462C>A (p. Cys154Ter) and a novel EX43_46 Del, which were respectively derived from her mother and father.
Conclusion:The compound heterozygous mutations of the MYO7A gene probably underlie the disease in this family. Our findings has enriched the mutation spectrum for non-syndromic autosomal recessive deafness 2.
