MYO3A Causes Human Dominant Deafness and Interacts with Protocadherin 15-CD2 Isoform.

doi:10.1002/humu.22961

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MYO3A Causes Human Dominant Deafness and Interacts with Protocadherin 15-CD2 Isoform.

Human mutation - 1 May 2016

Grati M'hamed, Yan Denise, Raval Manmeet H, Walsh Tom, Ma Qi, Chakchouk Imen, Kannan-Sundhari Abhiraami, Mittal Rahul, Masmoudi Saber, Blanton Susan H, Tekin Mustafa, King Mary-Claire, Yengo Christopher M, Liu Xue Zhong

Abstract excerpt

Hereditary hearing loss (HL) is characterized by both allelic and locus genetic heterogeneity. Both recessive and dominant forms of HL may be caused by different mutations in the same deafness gene. In a family with post-lingual progressive non-syndromic deafness, whole-exome sequencing of genomic DNA from five hearing-impaired relatives revealed a single variant, p.Gly488Glu (rs145970949:G>A) in MYO3A,...

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PMID: 26841241
DOI: 10.1002/humu.22961
PMCID: PMC4833613

Genes

MET
PCDH15

Variants

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