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Article

Identification of a novel compound heterozygous mutation in PTPRQ in a DFNB84 family with prelingual sensorineural hearing impairment.

Molecular genetics and genomics : MGG - 1 Jun 2015

Sang Qing, Mei Honglin, Kuermanhan Ahan, Feng Ruizhi, Guo Luo, Qu Ronggui, Xu Yao, Li Huawei, Jin Li, He Lin, Wang Lei

Abstract excerpt

With a prevalence of 0.1 %, hearing loss is among the most common sensory impairments and affects several million people around the world. Identification of deafness-related genes or loci may facilitate basic research and clinical translational research of the disorder. The PTPRQ gene encodes protein tyrosine phosphatase receptor Q, which is required for the formation of shaft connectors and the normal maturation...

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Source

Identifiers

PMID: 25557914
DOI: 10.1007/s00438-014-0979-1

Genes

PTPRQ

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Identification of a novel compound heterozygous mutation in PTPRQ in a DFNB84 family with prelingual sensorineural hearing impairment.PMID 25557914Read ↗

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