𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Mutations in the first MyTH4 domain of MYO15A are a common cause of DFNB3 hearing loss

✍ Scribed by A. Eliot Shearer; Michael S. Hildebrand; Jennifer A. Webster; Kimia Kahrizi; Nicole C. Meyer; Khadijeh Jalalvand; Sanaz Arzhanginy; William J. Kimberling; Dietrich Stephan; Melanie Bahlo; Richard J. H. Smith; Hossein Najmabadi

Publisher
John Wiley and Sons
Year
2009
Tongue
English
Weight
679 KB
Volume
119
Category
Article
ISSN
0023-852X

No coin nor oath required. For personal study only.

✦ Synopsis

Abstract

Objectives.

To use clinical and genetic analyses to determine the mutation causing autosomal recessive nonsyndromic hearing loss (ARNSHL) segregating in two consanguineous Iranian families.

Study Design.

Family study.

Methods.

Members of each family received otologic and audiometric examination for the type and extent of hearing loss. Linkage mapping using Affymetrix 50K GeneChips and short tandem repeat (STRP) analysis localized the hearing loss in both families to the DFNB3 locus. Direct sequencing of the MYO15A gene was completed on affected members of both families.

Results.

Family L‐3165 segregated a novel homozygous missense mutation (c.6371G>A) that results in a p.R2124Q amino acid substitution in the myosin XVa protein, while family L‐896 segregated a novel homozygous missense (c.6555C>T) mutation resulting in a p.P2073S amino acid change.

Conclusions.

These are the first MYO15A mutations reported to cause DFNB3 sensorineural hearing loss in the Iranian population. Like other mutations located in the myosin tail homology 4 (MyTH4) domain, the p.R2124Q and p.P2073S mutations are predicted to disrupt the function of the myosin XVa protein, which is integral to the mechanosensory activity of hair cells in the inner ear. Laryngoscope, 2009

πŸ“œ SIMILAR VOLUMES

MYO15A (DFNB3) mutations in Turkish hear
MYO15A (DFNB3) mutations in Turkish hearing loss families and functional modeling of a novel motor domain mutation
✍ Ersan Kalay; Abdullah Uzumcu; Elmar Krieger; Refik Γ‡aylan; Oya Uyguner; Melike U πŸ“‚ Article πŸ“… 2007 πŸ› John Wiley and Sons 🌐 English βš– 263 KB

## Abstract Myosin XVA is an unconventional myosin which has been implicated in autosomal recessive nonsyndromic hearing impairment (ARNSHI) in humans. In __Myo15__A mouse models, vestibular dysfunction accompanies the autosomal recessive hearing loss. Genomewide homozygosity mapping and subsequent

Clinical phenotype and mutations in conn
Clinical phenotype and mutations in connexin 26 (DFNB1/GJB2), the most common cause of childhood hearing loss
✍ Cohn, Edward S.; Kelley, Philip M. πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 45 KB πŸ‘ 2 views

Mutations in the gene for connexin 26, GJB2, are the most common cause of hearing loss in American and European populations, with a carrier rate of about 3%-a rate similar to that for cystic fibrosis. A single mutation, 35delG, is responsible for most of this autosomal recessive hearing loss, DFNB1.

Identification of mutations in the conne
Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss
✍ DA Scott; ML Kraft; R Carmi; A Ramesh; K Elbedour; Y Yairi; C. R. Srikumari Sris πŸ“‚ Article πŸ“… 1998 πŸ› John Wiley and Sons 🌐 English βš– 223 KB πŸ‘ 2 views

Mutations in the Cx26 gene have been shown to cause autosomal recessive nonsyndromic hearing loss (ARNSHL) at the DFNB1 locus on chromosome 13q12. Using direct sequencing, we screened the Cx26 coding region of affected and nonaffected members from seven ARNSHL families either linked to the DFNB1 loc