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).
| Original language | English |
|---|---|
| Pages (from-to) | 543-550 |
| Number of pages | 8 |
| Journal | Genetic Testing and Molecular Biomarkers |
| Volume | 14 |
| Issue number | 4 |
| DOIs | |
| State | Published - Aug 1 2010 |
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ASJC Scopus subject areas
- Genetics(clinical)
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Recurrent and private MYO15A mutations are associated with deafness in the Turkish population. / Cengiz, F. Basak; Duman, Duygu; Sirmaci, Asli; Tokgöz-Yilmaz, Suna; Erbek, Seyra; Öztürkmen-Akay, Hatice; Incesulu, Armagan; Edwards, Yvonne J K; Özdag, Hilal; Liu, Xue Z; Tekin, Mustafa.
In: Genetic Testing and Molecular Biomarkers, Vol. 14, No. 4, 01.08.2010, p. 543-550.Research output: Contribution to journal › Article
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TY - JOUR
T1 - Recurrent and private MYO15A mutations are associated with deafness in the Turkish population
AU - Cengiz, F. Basak
AU - Duman, Duygu
AU - Sirmaci, Asli
AU - Tokgöz-Yilmaz, Suna
AU - Erbek, Seyra
AU - Öztürkmen-Akay, Hatice
AU - Incesulu, Armagan
AU - Edwards, Yvonne J K
AU - Özdag, Hilal
AU - Liu, Xue Z
AU - Tekin, Mustafa
PY - 2010/8/1
Y1 - 2010/8/1
N2 - 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).
AB - 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).
UR - http://www.scopus.com/inward/record.url?scp=77955855341&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=77955855341&partnerID=8YFLogxK
U2 - 10.1089/gtmb.2010.0039
DO - 10.1089/gtmb.2010.0039
M3 - Article
C2 - 20642360
AN - SCOPUS:77955855341
VL - 14
SP - 543
EP - 550
JO - Genetic Testing and Molecular Biomarkers
JF - Genetic Testing and Molecular Biomarkers
SN - 1945-0265
IS - 4
ER -