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Novel PTPRQ variants associated with hearing loss in a Chinese family PTPRQ variants in Chinese hearing loss.
Hou, Yuan; Shi, Yuanzhen; Liu, Longyan; Duan, Shihong.
Afiliación
  • Hou Y; Department of Otolaryngology-Head and Neck Surgery, Lanzhou University Second Hospital, Lanzhou, China.
  • Shi Y; Department of Otolaryngology-Head and Neck Surgery, Lanzhou University Second Hospital, Lanzhou, China.
  • Liu L; Department of Otolaryngology-Head and Neck Surgery, Lanzhou University Second Hospital, Lanzhou, China.
  • Duan S; Department of Otolaryngology-Head and Neck Surgery, Lanzhou University Second Hospital, Lanzhou, China.
Front Genet ; 15: 1399760, 2024.
Article en En | MEDLINE | ID: mdl-39205941
ABSTRACT

Introduction:

Hearing loss is one of the most prevalent congenital sensory disorders. Over 50% of congenital hearing loss cases are attributed to genetic factors. The PTPRQ gene encodes the protein tyrosine phosphatase receptor Q, which plays an important role in maintaining the structure and function of the stereocilia of hair cells. Variants in the PTPRQ gene have been implicated in hereditary sensorineural hearing loss. Methods and

Results:

Utilizing next-generation sequencing technology, we identified novel compound heterozygous variants (c.977G>Ap.W326X and c.6742C>Tp.Q2248X) in the PTPRQ gene within a Chinese national lineage, marking the first association of these variants with hereditary sensorineural hearing loss.

Discussion:

Our findings further emphasize the critical role of PTPRQ in auditory function and contribute to a more comprehensive understanding of PTPRQ-associated hearing loss mechanisms, aiding in clinical management and genetic counseling.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: Front Genet Año: 2024 Tipo del documento: Article País de afiliación: China Pais de publicación: Suiza
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: Front Genet Año: 2024 Tipo del documento: Article País de afiliación: China Pais de publicación: Suiza