Recurrent and private MYO15A mutations are associated with deafness in the Turkish population.
The identities and frequencies of MYO15A mutations associated with hearing loss in different populations remained largely unknown. We screened the MYO15A gene for mutations in 104 unrelated multiplex and consanguineous Turkish families with autosomal recessive nonsyndromic sensorineural hearing loss using autozygosity mapping. The screening of MYO15A in 10 families mapped to the DFNB3 locus revealed five previously unreported mutations: p.Y289X (1 family), p.V1400M (1 family), p.S1481P (1 family), p.R1937TfsX10 (3 families), and p.S3335AfsX121 (2 families). Recurrent mutations were associated with conserved haplotypes suggesting the presence of founder effects. Severe to profound sensorineural hearing loss was observed in all subjects with homozygous mutations except for two members of a family who were homozygous for the p.Y289X mutation in the N-terminal extension domain and had considerable residual hearing. We estimate the prevalence of homozygous MYO15A mutations in autosomal recessive nonsyndromic deafness in Turkey as 0.062 (95% confidence interval is 0.020-0.105).
Cengiz
F Basak
FB
Division of Genetics, Department of Pediatrics, Ankara University School of Medicine, Ankara, Turkey.
Duman
Duygu
D
Sirmaci
Asli
A
Tokgöz-Yilmaz
Suna
S
Erbek
Seyra
S
Oztürkmen-Akay
Hatice
H
Incesulu
Armagan
A
Edwards
Yvonne J K
YJ
Ozdag
Hilal
H
Liu
Xue Z
XZ
Tekin
Mustafa
M
D000328:Adult; D002648:Child; D003241:Consanguinity; D003638:Deafness / Q000235:genetics*; D005190:Family; D005260:Female; D005787:Gene Frequency; D005828:Genetics, Population; D006239:Haplotypes; D006801:Humans; D020125:Mutation, Missense / Q000502:physiology; D009218:Myosins / Q000235:genetics*; D010375:Pedigree; D014421:Turkey
C485245:MYO15A protein, human; D009218:Myosins