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.
References in periodicals archive ?
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.
Ushib caused by mutations in the large myo7a gene, Is among the most severe and frequent forms of ush.
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].