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Article

A study of whirlin isoforms in the mouse vestibular system suggests potential vestibular dysfunction in DFNB31-deficient patients.

Human molecular genetics - 15 Dec 2015

Mathur Pranav Dinesh, Vijayakumar Sarath, Vashist Deepti, Jones Sherri M, Jones Timothy A, Yang Jun

Abstract excerpt

The DFNB31 gene plays an indispensable role in the cochlea and retina. Mutations in this gene disrupt its various isoforms and lead to non-syndromic deafness, blindness and deaf-blindness. However, the known expression of Dfnb31, the mouse ortholog of DFNB31, in vestibular organs and the potential vestibular-deficient phenotype observed in one Dfnb31 mutant mouse (Dfnb31(wi/wi)) suggest that DFNB31 may also be...

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Identifiers

PMID: 26420843
DOI: 10.1093/hmg/ddv403
PMCID: PMC4654056

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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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