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...
Saved in:
| Main Authors: | , , , , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Wiley
2018-01-01
|
| Series: | Neural Plasticity |
| Online Access: | http://dx.doi.org/10.1155/2018/9425725 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1841524573437165568 |
|---|---|
| author | Xia Wu Shan Wang Sen Chen Ying-ying Wen Bo Liu Wen Xie Dan Li Lin Liu Xiang Huang Yu Sun Wei-jia Kong |
| author_facet | Xia Wu Shan Wang Sen Chen Ying-ying Wen Bo Liu Wen Xie Dan Li Lin Liu Xiang Huang Yu Sun Wei-jia Kong |
| author_sort | Xia Wu |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-c2cd9b7c3cc6446ba3a6e68bc76c646a |
| institution | Kabale University |
| issn | 2090-5904 1687-5443 |
| language | English |
| publishDate | 2018-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Neural Plasticity |
| spelling | doaj-art-c2cd9b7c3cc6446ba3a6e68bc76c646a2025-02-03T05:52:54ZengWileyNeural Plasticity2090-59041687-54432018-01-01201810.1155/2018/94257259425725Autosomal Recessive Congenital Sensorineural Hearing Loss due to a Novel Compound Heterozygous PTPRQ Mutation in a Chinese FamilyXia Wu0Shan Wang1Sen Chen2Ying-ying Wen3Bo Liu4Wen Xie5Dan Li6Lin Liu7Xiang Huang8Yu Sun9Wei-jia Kong10Department of Otorhinolaryngology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430022, ChinaDepartment of Obstetrics and Gynecology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430022, ChinaDepartment of Otorhinolaryngology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430022, ChinaDepartment of Otorhinolaryngology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430022, ChinaDepartment of Otorhinolaryngology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430022, ChinaDepartment of Otorhinolaryngology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430022, ChinaDepartment of Otorhinolaryngology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430022, ChinaDepartment of Obstetrics and Gynecology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430022, ChinaInstitute of Otorhinolaryngology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430022, ChinaDepartment of Otorhinolaryngology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430022, ChinaDepartment of Otorhinolaryngology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430022, ChinaPTPRQ 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.http://dx.doi.org/10.1155/2018/9425725 |
| spellingShingle | Xia Wu Shan Wang Sen Chen Ying-ying Wen Bo Liu Wen Xie Dan Li Lin Liu Xiang Huang Yu Sun Wei-jia Kong Autosomal Recessive Congenital Sensorineural Hearing Loss due to a Novel Compound Heterozygous PTPRQ Mutation in a Chinese Family Neural Plasticity |
| title | Autosomal Recessive Congenital Sensorineural Hearing Loss due to a Novel Compound Heterozygous PTPRQ Mutation in a Chinese Family |
| title_full | Autosomal Recessive Congenital Sensorineural Hearing Loss due to a Novel Compound Heterozygous PTPRQ Mutation in a Chinese Family |
| title_fullStr | Autosomal Recessive Congenital Sensorineural Hearing Loss due to a Novel Compound Heterozygous PTPRQ Mutation in a Chinese Family |
| title_full_unstemmed | Autosomal Recessive Congenital Sensorineural Hearing Loss due to a Novel Compound Heterozygous PTPRQ Mutation in a Chinese Family |
| title_short | Autosomal Recessive Congenital Sensorineural Hearing Loss due to a Novel Compound Heterozygous PTPRQ Mutation in a Chinese Family |
| title_sort | autosomal recessive congenital sensorineural hearing loss due to a novel compound heterozygous ptprq mutation in a chinese family |
| url | http://dx.doi.org/10.1155/2018/9425725 |
| work_keys_str_mv | AT xiawu autosomalrecessivecongenitalsensorineuralhearinglossduetoanovelcompoundheterozygousptprqmutationinachinesefamily AT shanwang autosomalrecessivecongenitalsensorineuralhearinglossduetoanovelcompoundheterozygousptprqmutationinachinesefamily AT senchen autosomalrecessivecongenitalsensorineuralhearinglossduetoanovelcompoundheterozygousptprqmutationinachinesefamily AT yingyingwen autosomalrecessivecongenitalsensorineuralhearinglossduetoanovelcompoundheterozygousptprqmutationinachinesefamily AT boliu autosomalrecessivecongenitalsensorineuralhearinglossduetoanovelcompoundheterozygousptprqmutationinachinesefamily AT wenxie autosomalrecessivecongenitalsensorineuralhearinglossduetoanovelcompoundheterozygousptprqmutationinachinesefamily AT danli autosomalrecessivecongenitalsensorineuralhearinglossduetoanovelcompoundheterozygousptprqmutationinachinesefamily AT linliu autosomalrecessivecongenitalsensorineuralhearinglossduetoanovelcompoundheterozygousptprqmutationinachinesefamily AT xianghuang autosomalrecessivecongenitalsensorineuralhearinglossduetoanovelcompoundheterozygousptprqmutationinachinesefamily AT yusun autosomalrecessivecongenitalsensorineuralhearinglossduetoanovelcompoundheterozygousptprqmutationinachinesefamily AT weijiakong autosomalrecessivecongenitalsensorineuralhearinglossduetoanovelcompoundheterozygousptprqmutationinachinesefamily |