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Article

A novel variant in diaphanous homolog 1 (DIAPH1) as the cause of auditory neuropathy in a Chinese family.

International journal of pediatric otorhinolaryngology - 1 Jun 2020

Wu Kan, Wang Hongyang, Guan Jing, Lan Lan, Zhao Cui, Zhang Mengqian, Wang Dayong, Wang Qiuju

Abstract excerpt

OBJECTIVES: To determine the genetic cause of non-syndromic autosomal dominant deafness segregating in a Chinese Auditory neuropathy (AN) family. INTRODUCTION: AN is a genetically related rare disease characterized by sensorineural hearing loss and retention of hair cell function. Diaphanous Homolog 1 (DIAPH1) is the causative gene of DFNA1. To date, no evidence has been detected to reveal the connection between...

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PMID: 32087478
DOI: 10.1016/j.ijporl.2020.109947

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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