A Novel p.G141R Mutation in ILDR1 Leads to Recessive Nonsyndromic Deafness DFNB42 in Two Chinese Han Families
Joint Authors
Yang, Tao
Wu, Hao
Wang, Longhao
Wang, Xueling
Peng, Hu
Source
Issue
Vol. 2018, Issue 2018 (31 Dec. 2018), pp.1-6, 6 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2018-04-16
Country of Publication
Egypt
No. of Pages
6
Main Subjects
Abstract EN
Genetic hearing impairment is highly heterogeneous.
In this study, targeted next-generation sequencing (NGS) in two Chinese Han families identified a novel p.G141R homozygous mutation in ILDR1 as the genetic cause of the deafness.
Consistent with the recessive inheritance, cosegregation of the p.G141R variant with the hearing loss was confirmed in members of both families by PCR amplification and Sanger sequencing.
SNP genotyping analysis suggested that those two families were not closely related.
Our study showed that targeted NGS is an effective tool for diagnosis of genetic deafness and that p.G141R in ILDR1 may be a relatively frequent mutation for DFNB42 in Chinese Hans.
American Psychological Association (APA)
Wang, Xueling& Wang, Longhao& Peng, Hu& Yang, Tao& Wu, Hao. 2018. A Novel p.G141R Mutation in ILDR1 Leads to Recessive Nonsyndromic Deafness DFNB42 in Two Chinese Han Families. Neural Plasticity،Vol. 2018, no. 2018, pp.1-6.
https://search.emarefa.net/detail/BIM-1210333
Modern Language Association (MLA)
Wang, Xueling…[et al.]. A Novel p.G141R Mutation in ILDR1 Leads to Recessive Nonsyndromic Deafness DFNB42 in Two Chinese Han Families. Neural Plasticity No. 2018 (2018), pp.1-6.
https://search.emarefa.net/detail/BIM-1210333
American Medical Association (AMA)
Wang, Xueling& Wang, Longhao& Peng, Hu& Yang, Tao& Wu, Hao. A Novel p.G141R Mutation in ILDR1 Leads to Recessive Nonsyndromic Deafness DFNB42 in Two Chinese Han Families. Neural Plasticity. 2018. Vol. 2018, no. 2018, pp.1-6.
https://search.emarefa.net/detail/BIM-1210333
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1210333