Original Article
Analysis of MYO7A gene mutation in a family with non-syndromic autosomal recessive deafness
Shengran Wang, Litao Qin, Keyue Ding, Bingtao Hao, Shasha Bian, Zhaokun Wang, Qingqing Wang, Xin Wang, Weihua Zhang, Shixiu Liao
Published 2019-10-10
Cite as Chin J Med Genet, 2019, 36(10): 965-969. DOI: 10.3760/cma.j.issn.1003-9406.2019.10.004
Abstract
ObjectiveTo explore the genetic basis for a family with non-syndromic autosomal recessive deafness.
MethodsThe 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.
ResultsThe 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.
ConclusionThe 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.
Key words:
Non-syndromic deafness; Autosomal recessive inheritance; MYO7A gene; Mutation
Contributor Information
Shengran Wang
People’s Hospital of Zhengzhou University, Zhengzhou, Henan 450000, China
Litao Qin
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
Keyue Ding
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
Bingtao Hao
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
Shasha Bian
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
Zhaokun Wang
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
Qingqing Wang
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
Xin Wang
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
Weihua Zhang
Department of Obstetrics and Gynecology, Henan Provincial People’s Hospital, Zhengzhou, Henan, 450000 China
Shixiu Liao
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
