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Article

Novel OTOF mutations in Brazilian patients with auditory neuropathy.

Journal of human genetics - 1 Jul 2009

Romanos Jihane, Kimura Lilian, Fávero Mariana Lopes, Izarra Fernanda Attanasio R, de Mello Auricchio Maria Teresa Balester, Batissoco Ana Carla, Lezirovitz Karina, Abreu-Silva Ronaldo Serafim, Mingroni-Netto Regina Célia

Abstract excerpt

The OTOF gene encoding otoferlin is associated with auditory neuropathy (AN), a type of non-syndromic deafness. We investigated the contribution of OTOF mutations to AN and to non-syndromic recessive deafness in Brazil. A test for the Q829X mutation was carried out on a sample of 342 unrelated individuals with non-syndromic hearing loss, but none presented this mutation. We selected 48 cases suggestive of...

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Identifiers

PMID: 19461658
DOI: 10.1038/jhg.2009.45

Genes

OTOF

Variants

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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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