Unknown

Dataset Information

0

Screening for MYO15A gene mutations in autosomal recessive nonsyndromic, GJB2 negative Iranian deaf population.

ABSTRACT: MYO15A is located at the DFNB3 locus on chromosome 17p11.2, and encodes myosin-XV, an unconventional myosin critical for the formation of stereocilia in hair cells of cochlea. Recessive mutations in this gene lead to profound autosomal recessive nonsyndromic hearing loss (ARNSHL) in humans and the shaker2 (sh2) phenotype in mice. Here, we performed a study on 140 Iranian families in order to determine mutations causing ARNSHL. The families, who were negative for mutations in GJB2, were subjected to linkage analysis. Eight of these families showed linkage to the DFNB3 locus, suggesting a MYO15A mutation frequency of 5.71% in our cohort of Iranian population. Subsequent sequencing of the MYO15A gene led to identification of 7 previously unreported mutations, including 4 missense mutations, 1 nonsense mutation, and 2 deletions in different regions of the myosin-XV protein.

SUBMITTER: Fattahi Z 

PROVIDER: S-EPMC3757123 | biostudies-literature | 2012 Aug

REPOSITORIES: biostudies-literature

Json Xml
altmetric image

Publications

Screening for MYO15A gene mutations in autosomal recessive nonsyndromic, GJB2 negative Iranian deaf population.

Fattahi Zohreh Z   Shearer A Eliot AE   Babanejad Mojgan M   Bazazzadegan Niloofar N   Almadani Seyed Navid SN   Nikzat Nooshin N   Jalalvand Khadijeh K   Arzhangi Sanaz S   Esteghamat Fatemehsadat F   Abtahi Rezvan R   Azadeh Batool B   Smith Richard J H RJ   Kahrizi Kimia K   Najmabadi Hossein H  

American journal of medical genetics. Part A 20120626 8

MYO15A is located at the DFNB3 locus on chromosome 17p11.2, and encodes myosin-XV, an unconventional myosin critical for the formation of stereocilia in hair cells of cochlea. Recessive mutations in this gene lead to profound autosomal recessive nonsyndromic hearing loss (ARNSHL) in humans and the shaker2 (sh2) phenotype in mice. Here, we performed a study on 140 Iranian families in order to determine mutations causing ARNSHL. The families, who were negative for mutations in GJB2, were subjected  ...[more]

Similar Datasets

Unknown Screening of 10 DFNB Loci Causing Autosomal Recessive Non-Syndromic Hearing Loss in Two Iranian Populations Negative for GJB2 Mutations.
| S-EPMC6825662 | biostudies-literature
Unknown Three <i>MYO15A</i> Mutations Identified in One Chinese Family with Autosomal Recessive Nonsyndromic Hearing Loss.
| S-EPMC5907479 | biostudies-literature
Unknown Whole-exome sequencing identifies MYO15A mutations as a cause of autosomal recessive nonsyndromic hearing loss in Korean families.
| S-EPMC3727941 | biostudies-literature
Unknown Evaluation of the <i>GJB2</i> and <i>GJB6</i> Polymorphisms with Autosomal Recessive Nonsyndromic Hearing Loss in Iranian Population.
| S-EPMC8052483 | biostudies-literature
Unknown Identification of Novel Compound Heterozygous <i>MYO15A</i> Mutations in Two Chinese Families with Autosomal Recessive Nonsyndromic Hearing Loss.
| S-EPMC8140830 | biostudies-literature
Unknown Identification of a Novel MYO15A Mutation in a Chinese Family with Autosomal Recessive Nonsyndromic Hearing Loss.
| S-EPMC4550393 | biostudies-literature
Unknown Two Iranian families with a novel mutation in GJB2 causing autosomal dominant nonsyndromic hearing loss.
| S-EPMC3080436 | biostudies-literature
Unknown GJB2 c.235delC variant associated with autosomal recessive nonsyndromic hearing loss and auditory neuropathy spectrum disorder.
| S-EPMC6428124 | biostudies-literature
Unknown Compound Heterozygous Mutations in <i>TMC1</i> and <i>MYO15A</i> Are Associated with Autosomal Recessive Nonsyndromic Hearing Loss in Two Chinese Han Families.
| S-EPMC7416276 | biostudies-literature
Unknown Single nucleotide polymorphisms of the GJB2 and GJB6 genes are associated with autosomal recessive nonsyndromic hearing loss.
| S-EPMC4449875 | biostudies-literature