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Article

Mutational Spectrum of MYO15A and the Molecular Mechanisms of DFNB3 Human Deafness.

Human mutation - 1 Oct 2016

Rehman Atteeq U, Bird Jonathan E, Faridi Rabia, Shahzad Mohsin, Shah Sujay, Lee Kwanghyuk, Khan Shaheen N, Imtiaz Ayesha, Ahmed Zubair M, Riazuddin Saima, Santos-Cortez Regie Lyn P, Ahmad Wasim, Leal Suzanne M, Riazuddin Sheikh, Friedman Thomas B

Abstract excerpt

Deafness in humans is a common neurosensory disorder and is genetically heterogeneous. Across diverse ethnic groups, mutations of MYO15A at the DFNB3 locus appear to be the third or fourth most common cause of autosomal-recessive, nonsyndromic deafness. In 49 of the 67 exons of MYO15A, there are currently 192 recessive mutations identified, including 14 novel mutations reported here. These mutations are...

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PMID: 27375115
DOI: 10.1002/humu.23042
PMCID: PMC5021573

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