ArticleNeural plasticity2018
Autosomal Recessive Congenital Sensorineural Hearing Loss due to a Novel Compound Heterozygous PTPRQ Mutation in a Chinese Family.
Article in Neural plasticity, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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13 citing papers in PubMed, 16 citations in OpenAlex.
- Global, regional, and national burden of hearing loss from 1990 to 2021: findings from the 2021 global burden of disease study.Annals of medicine · 2025Article
- Detailed Clinical Features ofGenes · 2024Article
- NovelFrontiers in genetics · 2024Article
- NovelJournal of pediatric genetics · 2023Article
- A Descriptive Observational Study of GJB2 and GJB6 Mutations in Familial Autosomal Recessive Non-syndromic Hearing Impairment.Indian journal of otolaryngology and head and neck surgery : official publication of the Association of Otolaryngologists of India · 2023Article
- Delayed progressive sensorineural hearing loss due to a novel compound heterozygous PTPRQ mutation in a Chinese patient.Journal of clinical laboratory analysis · 2023Article
- Hereditable variants of classical protein tyrosine phosphatase genes: Will they prove innocent or guilty?Frontiers in cell and developmental biology · 2022Review
- Identification of Novel Candidate Genes and Variants for Hearing Loss and Temporal Bone Anomalies.Genes · 2021Article
- Detection and Functional Verification of Noncanonical Splice Site Mutations in Hereditary Deafness.Frontiers in genetics · 2021Article
- Identification of Hearing Loss-Associated Variants ofBioMed research international · 2021Article
- First confirmatory study on PTPRQ as an autosomal dominant non-syndromic hearing loss gene.Journal of translational medicine · 2019Article
- Article
- Auditory Neuropathy Spectrum Disorder due to Two Novel Compound HeterozygousNeural plasticity · 2019Article
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11 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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.
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