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
Jan 15, 1998·Cell·F PignoniS L Zipursky
Jul 13, 1999·Human Molecular Genetics·E FransenG Van Camp
Jan 3, 2001·The Journal of Comparative Neurology·A KarisB Fritzsch
Feb 13, 2001·Human Molecular Genetics·S WayneR J Smith
Oct 24, 2002·Human Molecular Genetics·Linda M PetersRobert J Morell
Feb 18, 2005·Journal of the American Academy of Audiology·Dunay SchmulianRené Hugo
Mar 1, 2005·Nature Genetics·Jost SchönbergerChristine E Seidman
Feb 10, 2007·Cell·Ivan Garcia-BassetsMichael G Rosenfeld
Jun 15, 2007·American Journal of Medical Genetics. Part a·Tomoko MakishimaAndrew J Griffith
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
Jun 30, 2009·Nature Protocols·Prateek KumarPauline C Ng
Jul 17, 2009·Human Mutation·Yuichi AbeToshiyuki Miyashita
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
May 26, 2011·Human Molecular Genetics·Yanchao HanAnming Meng
Sep 4, 2012·Orphanet Journal of Rare Diseases·Jeong-In BaekSang-Heun Lee
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
Citations
Jan 23, 2016·BMC Medical Genetics·Nari RyuUn-Kyung Kim
Jun 9, 2016·International Journal of Environmental Research and Public Health·Xiangrong XuHuanling Zhang
May 19, 2019·BMC Medical Genetics·Lukas VargaDaniela Gasperikova
Dec 3, 2016·PloS One·Yoh-Ichiro IwasaShin-Ichi Usami
Feb 9, 2019·Molecular Syndromology·Martin Poot
Sep 26, 2020·Frontiers in Molecular Biosciences·Vignesh SundararajanRuby Yun-Ju Huang
Aug 30, 2018·Human Genome Variation·Satoko AbeShin-Ichi Usami
Dec 11, 2020·Molecular Genetics & Genomic Medicine·Yanfang MiHongen Xu
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