Evaluation of the contribution of the EYA4 and GRHL2 genes in Korean patients with autosomal dominant non-syndromic hearing loss

PloS One
Ye-Ri KimUn-Kyung Kim

Abstract

EYA4 and GRHL2 encode transcription factors that play an important role in regulating many developmental stages. Since EYA4 and GRHL2 were identified as the transcription factors for the DFNA10 and DFNA28, 8 EYA4 mutations and 2 GRHL2 mutations have been reported worldwide. However, these genes have been reported in few studies of the Korean population. In this study, we performed a genetic analysis of EYA4 and GRHL2 in 87 unrelated Korean patients with autosomal dominant non-syndromic hearing loss (NSHL). A total of 4 genetic variants in the EYA4 gene were identified, including the 2 nonsense mutations p.S288X and p.Q393X. The novel mutation p.Q393X (c.1177C>T) resulted in a change in the codon at amino acid position 393 from a glutamine to a stop codon. The p.Q393X allele was predicted to encode a truncated protein lacking the entire C-terminal Eya homolog region (Eya HR), which is essential for the interaction with the transcription factor SIX3. The p.S288X (c.863C>A) mutation was found in a Korean family from a previous study. We analyzed p.S288X-linked microsatellite markers and determined that p.S288X might be a founder mutation and a hotspot mutation in Koreans. In GRHL2, a total of 4 genetic variants were identified, bu...Continue Reading

References

Sep 1, 1995·Otolaryngology--head and Neck Surgery : Official Journal of American Academy of Otolaryngology-Head and Neck Surgery
Jun 1, 1994·The Annals of Otology, Rhinology, and Laryngology·X Liu, L Xu
Oct 24, 2002·Human Molecular Genetics·Linda M PetersRobert J Morell
Feb 18, 2005·Journal of the American Academy of Audiology·Dunay SchmulianRené Hugo
Jun 15, 2007·American Journal of Medical Genetics. Part a·Michael S HildebrandHans-Henrik M Dahl
Feb 24, 2009·Nature·Peter J CookMichael G Rosenfeld
Aug 3, 2010·Nature Methods·Jana Marie SchwarzDominik Seelow
Aug 24, 2010·BMC Developmental Biology·Maxime BouchardBernd Fritzsch
May 10, 2011·The International Journal of Developmental Biology·Jeremy S DuncanBernd Fritzsch
Sep 14, 2012·Cellular and Molecular Life Sciences : CMLS·Emmanuel Tadjuidje, Rashmi S Hegde
Jan 15, 2013·Current Protocols in Human Genetics·Ivan AdzhubeiShamil R Sunyaev
Sep 23, 2014·International Journal of Molecular Medicine·Minxing TanGuangqian Xing

❮ Previous
Next ❯

Citations

Jun 9, 2016·International Journal of Environmental Research and Public Health·Xiangrong XuHuanling Zhang
May 19, 2019·BMC Medical Genetics·Lukas VargaDaniela Gasperikova
Feb 9, 2019·Molecular Syndromology·Martin Poot
Aug 30, 2018·Human Genome Variation·Satoko AbeShin-Ichi Usami
Mar 22, 2021·Human Genetics·Shadi AhmadmehrabiDaniel J Rader
Apr 17, 2021·Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology·Takashi IshinoRina Watanabe

❮ Previous
Next ❯

Methods Mentioned

BETA
PCR
genotyping

Software Mentioned

Basic Local Alignment Search Tool ( BLAST )
ClinVar
SIFT
MutationTaster
PhyloP
Map Viewer
GeneMapper
ESEfinder
PolyPhen

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.

Cardiomyopathy

Cardiomyopathy is a disease of the heart muscle, that can lead to muscular or electrical dysfunction of the heart. It is often an irreversible disease that is associated with a poor prognosis. There are different causes and classifications of cardiomyopathies. Here are the latest discoveries pertaining to this disease.

CREs: Gene & Cell Therapy

Gene and cell therapy advances have shown promising outcomes for several diseases. The role of cis-regulatory elements (CREs) is crucial in the design of gene therapy vectors. Here is the latest research on CREs in gene and cell therapy.