MYO7A gene

MYO7A gene

the mutations of the gene are responsible for Usher type 1B syndrome, DFNB2, and DFNA11; located on 11q13.5; encodes unconventional myosin that moves actin filaments and maintains stereociliary integrity in cochlear inner and outer hair cells.
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Variants in MYO7A gene: Three common missense variation T>C/C (rs1052030, c.47T>C), C>A/A (rs948962, c.5860C>A), A>T/T (rs2276288, c.4996A>T) in MYO7A were found in both brothers (Table-I).
Table-II: Novel variation detected in EVC2, TH, and MYO7A genes in both brothers.
The MYO7A gene mutations have been reported as the cause of Usher syndrome type 1B (USH1B), a syndromic deafness combined with retinitis pigmentosa and vestibular abnormalities [12].