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Updated: Oct 1, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
DFNB31, a recessive form of sensorineural hearing loss, maps to chromosome 9q32-34
Mirna Mustapha1, Eliane Chouery, Sébastien Chardenoux
1Unité de Génétique des Déficits Sensoriels, CNRS URA 1968, Institut Pasteur, 75724 Paris cedex 15, France.
Abstract:
We report the identification of a novel locus responsible for an autosomal recessive form of hearing loss (DFNB) segregating in a Palestinian consanguineous family from Jordan. The affected individuals suffer from profound prelingual sensorineural hearing impairment. A genetic linkage with polymorphic markers surrounding D9S1776 was detected, thereby identifying a novel deafness locus, DFNB31. This locus could be assigned to a 9q32-34 region of 15 cM between markers D9S289 and D9S1881. The whirler (wi) mouse mutant, characterised by deafness and circling behaviour, maps to the corresponding region on the murine chromosome 4, thus suggesting that DFNB31 and whirler may result from orthologous gene defects.
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