Novel MYO15A variants are associated with hearing loss in the two Iranian pedigrees

BMC Medical Genetics
somayeh khatamiSamira Asgharzadeh

Abstract

Clinical genetic diagnosis of non-syndromic hearing loss (NSHL) is quite challenging. With regard to its high heterogeneity as well as large size of some genes, it is also really difficult to detect causative mutations using traditional approaches. One of the recent technologies called whole-exome sequencing (WES) has been thus developed in this domain to remove the limitations of conventional methods. This study was a report on a research study of two unrelated pedigrees with multiple affected cases of hearing loss (HL). Accordingly, clinical evaluations and genetic analysis were performed in both families. The results of WES data analysis to uncover autosomal recessive non-syndromic hearing loss (ARNSHL) disease-causing variants was reported in the present study. Initial analysis identified two novel variants of MYO15A i.e. c.T6442A:p.W2148R and c.10504dupT:p.C3502Lfs*15 correspondingly which were later confirmed by Sanger validations and segregation analyses. According to online prediction tools, both identified variants seemed to have damaging effects. In this study, whole exome sequencing were used as a first approach strategy to identify the two novel variants in MYO15A in two Iranian families with ARNSHL.

References

Sep 3, 1999·Journal of Muscle Research and Cell Motility·M J Redowicz
Oct 3, 2002·Nature Reviews. Genetics·Jose L Badano, Nicholas Katsanis
Sep 14, 2007·European Journal of Human Genetics : EJHG·Karina LezirovitzRegina C Mingroni-Netto
Sep 14, 2007·American Journal of Medical Genetics. Part a·Ersan KalayHannie Kremer
Mar 11, 2009·The Laryngoscope·A Eliot ShearerHossein Najmabadi
Jun 28, 2012·American Journal of Medical Genetics. Part a·Zohreh FattahiHossein Najmabadi
Aug 21, 2012·American Journal of Medical Genetics. Part a·Mojgan BabanejadHossein Najmabadi
Oct 5, 2014·International Journal of Pediatric Otorhinolaryngology·Hossein Najmabadi, Kimia Kahrizi
Mar 21, 2015·The Annals of Otology, Rhinology, and Laryngology·Maiko MiyagawaShin-Ichi Usami
Oct 9, 2015·Journal of Medical Genetics·Christina M Sloan-HeggenHossein Najmabadi
May 12, 2016·Proceedings of the National Academy of Sciences of the United States of America·Vicente José Planelles-HerreroMargaret A Titus
Jul 5, 2016·Human Mutation·Atteeq U RehmanThomas B Friedman
Dec 22, 2016·European Journal of Human Genetics : EJHG·Celia Zazo SecoHelger G Yntema
Apr 10, 2017·International Journal of Pediatric Otorhinolaryngology·Mahsa MotavafNejat Mahdieh
Dec 24, 2018·International Journal of Pediatric Otorhinolaryngology·Hoda MehreganHossein Najmabadi

❮ Previous
Next ❯

Citations


❮ Previous
Next ❯

Methods Mentioned

BETA
Exome Sequencing
cochlear implant

Software Mentioned

ConSurf
Genome Analysis Tool Kit
phred
MutationTaster2
FATHMM
SIFT
MetaLR
PANTHER
CADD
ANNOVAR

Related Concepts

Related Feeds

Auditory Perception

Auditory perception is the ability to receive and interpret information attained by the ears. Here is the latest research on factors and underlying mechanisms that influence auditory perception.