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Article

Novel biallelic OTOGL mutations in a Chinese family with moderate non-syndromic sensorineural hearing loss.

International journal of pediatric otorhinolaryngology - 1 Jun 2015

Gu Xiaodong, Sun Shan, Guo Luo, Lu Xiaoling, Mei Honglin, Lai Chuijin, Li Huawei

Abstract excerpt

OBJECTIVE: Autosomal recessive non-syndromic hearing loss (DFNB) is a genetically heterogeneous disorder. So far, 55 pathogenic genes have been identified. In this study, we aim to characterize the clinical feature and the genetic cause of a Chinese DFNB family. METHODS: Whole exome sequencing was performed on the proband. Co-segregation between the hearing loss phenotype and the potential causative mutations was...

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Source

Identifiers

PMID: 25829320
DOI: 10.1016/j.ijporl.2015.03.008

Genes

OTOGL

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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