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Article

A Novel PTPRQ c.3697del Variant Causes Autosomal Dominant Progressive Hearing Loss in Both Humans and Mice.

Clinical genetics - 1 Feb 2025

Zhou Yaqi, Yin Na, Ji Lingchao, Lu Xiaochan, Yang Weiqiang, Ye Weiping, Du Wenhui, Li Ya, Hu Hongyi, Mei Xueshuang

Abstract excerpt

PTPRQ plays an important role in the development of inner ear hair cell stereocilia. While many autosomal recessive variants in PTPRQ have been identified as the pathogenic cause for nonsyndromic hearing loss (DFNB84A), so far only one autosomal dominant PTPRQ variant, c.6881G>A (p.Trp2294*), has been reported for late-onset, mild-to-severe hearing loss (DFNA73). By using targeted next-generation sequencing, this...

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Identifiers

PMID: 39434500
DOI: 10.1111/cge.14634

Genes

PTPRQ

Variants

Provenance

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A Novel PTPRQ c.3697del Variant Causes Autosomal Dominant Progressive Hearing Loss in Both Humans and Mice.PMID 39434500Read ↗

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