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

Genetic Testing and Molecular Biomarkers
F Basak CengizMustafa Tekin

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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Citations

Jun 2, 2012·Frontiers in Bioscience (Landmark Edition)·Duygu Duman, Mustafa Tekin
Jan 27, 2016·International Journal of Pediatric Otorhinolaryngology·Wei LiChunfu Dai
Dec 28, 2011·Hearing Research·Meghan C DrummondThomas B Friedman
Jun 28, 2012·American Journal of Medical Genetics. Part a·Zohreh FattahiHossein Najmabadi
Feb 27, 2015·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Nayoung K D KimByung Yoon Choi
Aug 1, 2015·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Guney BademciMustafa Tekin
Jul 18, 2015·Genetic Testing and Molecular Biomarkers·Denise YanXue Zhong Liu
Jun 2, 2015·Molecular Genetics & Genomic Medicine·Fatima Ammar-KhodjaChristine Petit
Jul 5, 2016·Human Mutation·Atteeq U RehmanThomas B Friedman
Mar 21, 2015·The Annals of Otology, Rhinology, and Laryngology·Maiko MiyagawaShin-Ichi Usami
Dec 2, 2010·Genetic Testing and Molecular Biomarkers·Duygu DumanMustafa Tekin
Nov 22, 2016·Annals of Human Genetics·Gabrielle N ManzoliMustafa Tekin

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Methods Mentioned

BETA
Assay
chip
electrophoresis
PCR
genotyping
X-ray

Software Mentioned

Model
MODEL SERVER
GTYPE
SIFT
GeneHunter
Excel
GCOS
GRR ( Graphical Relationship Representation )
GeneChip Operating
JOY

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