![](/images/graphics-bg.png)
Autosomal Recessive Congenital Sensorineural Hearing Loss due to a Novel Compound Heterozygous PTPRQ Mutation in a Chinese Family
Joint Authors
Chen, Sen
Sun, Yu
Kong, Wei-Jia
Wu, Xia
Wang, Shan
Wen, Ying-ying
Liu, Bo
Xie, Wen
Li, Dan
Liu, Lin
Huang, Xiang
Source
Issue
Vol. 2018, Issue 2018 (31 Dec. 2018), pp.1-6, 6 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2018-04-19
Country of Publication
Egypt
No. of Pages
6
Main Subjects
Abstract EN
PTPRQ gene, encoding protein tyrosine phosphatase receptor Q, is essential for the normal maturation and function of hair bundle in the cochlea.
Its mutations can cause the defects of stereocilia in hair cell, which lead to nonsyndromic sensorineural hearing loss.
Using next-generation sequencing and Sanger sequencing method, we identified a novel compound heterozygous missense mutation, c.4472C>T p.T1491M (maternal allele) and c.1973T>C p.V658A (paternal allele), in PTPRQ gene.
The two mutations are the first reported to be the cause of recessively inherited sensorineural hearing loss.
Hearing loss levels and progression involved by PTPRQ mutations among the existing cases seem to be varied, and the relationship between genotypes and phenotypes is unclear.
Our data here further prove the important role of PTPRQ in auditory function and provide more information for the further mechanism research of PTPRQ-related hearing loss.
American Psychological Association (APA)
Wu, Xia& Wang, Shan& Chen, Sen& Wen, Ying-ying& Liu, Bo& Xie, Wen…[et al.]. 2018. Autosomal Recessive Congenital Sensorineural Hearing Loss due to a Novel Compound Heterozygous PTPRQ Mutation in a Chinese Family. Neural Plasticity،Vol. 2018, no. 2018, pp.1-6.
https://search.emarefa.net/detail/BIM-1210548
Modern Language Association (MLA)
Wu, Xia…[et al.]. Autosomal Recessive Congenital Sensorineural Hearing Loss due to a Novel Compound Heterozygous PTPRQ Mutation in a Chinese Family. Neural Plasticity No. 2018 (2018), pp.1-6.
https://search.emarefa.net/detail/BIM-1210548
American Medical Association (AMA)
Wu, Xia& Wang, Shan& Chen, Sen& Wen, Ying-ying& Liu, Bo& Xie, Wen…[et al.]. Autosomal Recessive Congenital Sensorineural Hearing Loss due to a Novel Compound Heterozygous PTPRQ Mutation in a Chinese Family. Neural Plasticity. 2018. Vol. 2018, no. 2018, pp.1-6.
https://search.emarefa.net/detail/BIM-1210548
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1210548