Recurrent and private MYO15A mutations are associated with deafness in the Turkish population

F. Basak Cengiz, Duygu Duman, Asli Sirmaci, Suna Tokgöz-Yilmaz, Seyra Erbek, Hatice Öztürkmen-Akay, Armagan Incesulu, Yvonne J K Edwards, Hilal Özdag, Xue Z Liu, Mustafa Tekin

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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 languageEnglish
Pages (from-to)543-550
Number of pages8
JournalGenetic Testing and Molecular Biomarkers
Volume14
Issue number4
DOIs
StatePublished - Aug 1 2010

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Deafness
Mutation
Population
Founder Effect
Sensorineural Hearing Loss
Mutation Rate
Turkey
Hearing Loss
Haplotypes
Hearing
Confidence Intervals
Genes

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

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 journalArticle

Cengiz, FB, Duman, D, Sirmaci, A, Tokgöz-Yilmaz, S, Erbek, S, Öztürkmen-Akay, H, Incesulu, A, Edwards, YJK, Özdag, H, Liu, XZ & Tekin, M 2010, 'Recurrent and private MYO15A mutations are associated with deafness in the Turkish population', Genetic Testing and Molecular Biomarkers, vol. 14, no. 4, pp. 543-550. https://doi.org/10.1089/gtmb.2010.0039
Cengiz FB, Duman D, Sirmaci A, Tokgöz-Yilmaz S, Erbek S, Öztürkmen-Akay H et al. Recurrent and private MYO15A mutations are associated with deafness in the Turkish population. Genetic Testing and Molecular Biomarkers. 2010 Aug 1;14(4):543-550. https://doi.org/10.1089/gtmb.2010.0039
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. / Recurrent and private MYO15A mutations are associated with deafness in the Turkish population. In: Genetic Testing and Molecular Biomarkers. 2010 ; Vol. 14, No. 4. pp. 543-550.
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