Published January 1, 2010
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Recurrent and Private MYO15A Mutations Are Associated with Deafness in the Turkish Population
Creators
- 1. Ankara Univ, Div Genet, Sch Med, Dept Pediat, TR-06100 Ankara, Turkey
- 2. Baskent Univ, Sch Med, Dept Otorhinolaryngol, TR-06490 Ankara, Turkey
- 3. Private Veni Vidi Hosp, Dept Radiol, Diyarbakir, Turkey
- 4. Eskisehir Osmangazi Univ, Sch Med, Dept Otorhinolaryngol, Eskisehir, Turkey
- 5. Ankara Univ, Inst Biotechnol, TR-06100 Ankara, Turkey
- 6. Univ Miami, Miller Sch Med, Dept Otolaryngol, Miami, FL 33136 USA
Description
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).
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