Autosomal Recessive Congenital Sensorineural Hearing Loss due to a Novel Compound Heterozygous PTPRQ Mutation in a Chinese Family

Autosomal Recessive Congenital Sensorineural Hearing Loss due to a Novel Compound Heterozygous PTPRQ Mutation in a Chinese Family

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 an...

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Veröffentlicht in:Neural plasticity. - 1998. - 2018(2018) vom: 30., Seite 9425725
1. Verfasser: Wu, Xia (VerfasserIn)
Weitere Verfasser: Wang, Shan, Chen, Sen, Wen, Ying-Ying, Liu, Bo, Xie, Wen, Li, Dan, Liu, Lin, Huang, Xiang, Sun, Yu, Kong, Wei-Jia
Format: Online-Aufsatz
Sprache:English
Veröffentlicht: 2018
Zugriff auf das übergeordnete Werk:Neural plasticity
Schlagworte:Journal Article Research Support, Non-U.S. Gov't Mutant Proteins PTPRQ protein, human EC 3.1.3.48 Receptor-Like Protein Tyrosine Phosphatases, Class 3
Beschreibung
Zusammenfassung: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
Beschreibung:Date Completed 26.11.2018
Date Revised 07.12.2022
published: Electronic-eCollection
Citation Status MEDLINE
ISSN:1687-5443
DOI:10.1155/2018/9425725