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Article

MITF variants cause nonsyndromic sensorineural hearing loss with autosomal recessive inheritance.

Scientific reports - 29 Jul 2020

Thongpradit Supranee, Jinawath Natini, Javed Asif, Noojarern Saisuda, Khongkraparn Arthaporn, Tim-Aroon Thipwimol, Lertsukprasert Krisna, Suktitipat Bhoom, Jensen Laran T, Wattanasirichaigoon Duangrurdee

Abstract excerpt

MITF is a known gene underlying autosomal dominant hearing loss, Waardenburg syndrome (WS). Biallelic MITF mutations have been found associated with a rare hearing loss syndrome consisting eye abnormalities and albinism; and a more severe type of WS whose heterozygous parents were affected with classic WS in both cases. The aims of this study were to identify a new candidate gene causing autosomal recessive...

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Identifiers

PMID: 32728090
DOI: 10.1038/s41598-020-69633-4
PMCID: PMC7391749

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