Recurrent and Private MYO15A Mutations Are Associated with Deafness in the Turkish Population
Publication: Genetic Testing and Molecular Biomarkers
Volume 14, Issue Number 4
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).
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Published In
Genetic Testing and Molecular Biomarkers
Volume 14 • Issue Number 4 • August 2010
Pages: 543 - 550
PubMed: 20642360
Copyright
Copyright 2010, Mary Ann Liebert, Inc.
History
Published online: 19 August 2010
Published in print: August 2010
Published ahead of print: 19 July 2010
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No competing financial interests exist.
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