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Article

Functional null mutations of MSRB3 encoding methionine sulfoxide reductase are associated with human deafness DFNB74.

American journal of human genetics - 7 Jan 2011

Ahmed Zubair M, Yousaf Rizwan, Lee Byung Cheon, Khan Shaheen N, Lee Sue, Lee Kwanghyuk, Husnain Tayyab, Rehman Atteeq Ur, Bonneux Sarah, Ansar Muhammad, Ahmad Wasim, Leal Suzanne M, Gladyshev Vadim N, Belyantseva Inna A, Van Camp Guy, Riazuddin Sheikh, Friedman Thomas B, Riazuddin Saima

Abstract excerpt

The DFNB74 locus for autosomal-recessive, nonsyndromic deafness segregating in three families was previously mapped to a 5.36 Mb interval on chromosome 12q14.2-q15. Subsequently, we ascertained five additional consanguineous families in which deafness segregated with markers at this locus and refined the critical interval to 2.31 Mb. We then sequenced the protein-coding exons of 18 genes in this interval. The...

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Identifiers

PMID: 21185009
DOI: 10.1016/j.ajhg.2010.11.010
PMCID: PMC3014371

Genes

MSRB3

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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