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Article

Novel OTOF pathogenic variant segregating with non-syndromic hearing loss in a consanguineous family from tribal Rajouri in Jammu and Kashmir.

International journal of pediatric otorhinolaryngology - 1 Mar 2020

Kuchay Raja A H, Mir Yaser Rafiq, Zeng Xue, Hassan Asima, Namba Kazunori, Tekin Mustafa

Abstract excerpt

BACKGROUND: Hereditary hearing loss is characterized by a very high genetic heterogeneity. The OTOF (Locus: DFNB9), encoding otoferlin, is reported to be one of the major causes of non-syndromic hearing loss, and is also reported to be the most common cause of non-syndromic recessive auditory neuropathy spectrum disorder. METHODS: In this study, whole exome sequencing was employed for detection of novel...

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Identifiers

PMID: 31875531
DOI: 10.1016/j.ijporl.2019.109831

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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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