Recurrent and private MYO15A mutations are associated with deafness in the Turkish population.
Genet Test Mol Biomarkers
; 14(4): 543-50, 2010 Aug.
Article
em En
| MEDLINE
| ID: mdl-20642360
ABSTRACT
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).
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Miosinas
/
Surdez
Tipo de estudo:
Risk_factors_studies
Limite:
Adult
/
Child
/
Female
/
Humans
País/Região como assunto:
Asia
Idioma:
En
Revista:
Genet Test Mol Biomarkers
Assunto da revista:
BIOLOGIA MOLECULAR
/
GENETICA
Ano de publicação:
2010
Tipo de documento:
Article
País de afiliação:
Turquia