Screening for MYO15A gene mutations in autosomal recessive nonsyndromic, GJB2 negative Iranian deaf population.
MYO15A is located at the DFNB3 locus on chromosome 17p11.2, and encodes myosin-XV, an unconventional myosin critical for the formation of stereocilia in hair cells of cochlea. Recessive mutations in this gene lead to profound autosomal recessive nonsyndromic hearing loss (ARNSHL) in humans and the shaker2 (sh2) phenotype in mice. Here, we performed a study on 140 Iranian families in order to determine mutations causing ARNSHL. The families, who were negative for mutations in GJB2, were subjected to linkage analysis. Eight of these families showed linkage to the DFNB3 locus, suggesting a MYO15A mutation frequency of 5.71% in our cohort of Iranian population. Subsequent sequencing of the MYO15A gene led to identification of 7 previously unreported mutations, including 4 missense mutations, 1 nonsense mutation, and 2 deletions in different regions of the myosin-XV protein.
Genetics Research Centre, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
Zohreh
Z
Fattahi
A Eliot
AE
Shearer
Mojgan
M
Babanejad
Niloofar
N
Bazazzadegan
Seyed Navid
SN
Almadani
Nooshin
N
Nikzat
Khadijeh
K
Jalalvand
Sanaz
S
Arzhangi
Fatemehsadat
F
Esteghamat
Rezvan
R
Abtahi
Batool
B
Azadeh
Richard J H
RJ
Smith
Kimia
K
Kahrizi
Hossein
H
Najmabadi
D002874:Chromosome Mapping; D002886:Chromosomes, Human, Pair 17; D000072259:Connexin 26; D017630:Connexins; D003638:Deafness / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007492:Iran; D008297:Male; D009154:Mutation; D009218:Myosins / Q000235:genetics*; D010375:Pedigree
D017630:Connexins; C000607042:GJB2 protein, human; C485245:MYO15A protein, human; D000072259:Connexin 26; D009218:Myosins