A prevalent founder mutation and genotype-phenotype correlations of OTOF in Japanese patients with auditory neuropathy

Clinical Genetics
T MatsunagaK Kaga

Abstract

Auditory neuropathy is a hearing disorder characterized by normal outer hair cell function and abnormal neural conduction of the auditory pathway. Aetiology and clinical presentation of congenital or early-onset auditory neuropathy are heterogeneous, and their correlations are not well understood. Genetic backgrounds and associated phenotypes of congenital or early-onset auditory neuropathy were investigated by systematically screening a cohort of 23 patients from unrelated Japanese families. Of the 23 patients, 13 (56.5%) had biallelic mutations in OTOF, whereas little or no association was detected with GJB2 or PJVK, respectively. Nine different mutations of OTOF were detected, and seven of them were novel. p.R1939Q, which was previously reported in one family in the United States, was found in 13 of the 23 patients (56.5%), and a founder effect was determined for this mutation. p.R1939Q homozygotes and compound heterozygotes of p.R1939Q and truncating mutations or a putative splice site mutation presented with stable, and severe-to-profound hearing loss with a flat or gently sloping audiogram, whereas patients who had non-truncating mutations except for p.R1939Q presented with moderate hearing loss with a steeply sloping, ge...Continue Reading

References

Jun 1, 1996·Brain : a Journal of Neurology·A StarrC I Berlin
Jan 14, 2000·Journal of Medical Genetics·S UsamiS Komune
Feb 26, 2000·Annual Review of Genetics·P Hilleren, R Parker
Nov 25, 2003·Human Mutation·Montserrat Rodríguez-BallesterosIgnacio del Castillo
Feb 27, 2004·Journal of Medical Genetics·K CrynsG Van Camp
Oct 14, 2005·American Journal of Medical Genetics. Part a·Xing ChengBronya Keats
Dec 29, 2005·American Journal of Human Genetics·Rikkert L SnoeckxGuy Van Camp
Apr 1, 2006·International Journal of Pediatric Otorhinolaryngology·Astrid FoerstMartin Walger
Sep 11, 2007·American Journal of Otolaryngology·Eyal RavehJoseph Attias
Oct 22, 2008·Nucleic Acids Research·Florian KieferTorsten Schwede
May 23, 2009·Journal of Human Genetics·Jihane RomanosRegina Célia Mingroni-Netto
Mar 13, 2010·Audiology & Neuro-otology·Yu-Hsun ChiuChuan-Jen Hsu
Mar 17, 2010·Biochemical and Biophysical Research Communications·Sandrine MarlinFrançoise Denoyelle
Jul 14, 2010·Proceedings of the National Academy of Sciences of the United States of America·Cynthia J SchoenMarci M Lesperance

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Citations

Sep 24, 2013·BMC Medical Genetics·Yoh-ichiro IwasaShin-ichi Usami
Apr 22, 2014·International Journal of Pediatric Otorhinolaryngology·Muzeyyen Yildirim-BaylanMustafa Tekin
Jul 19, 2014·International Journal of Audiology·Frederic VenailMichel Mondain
Jul 26, 2015·Auris, Nasus, Larynx·Kimitaka Kaga
Aug 16, 2015·Otolaryngologic Clinics of North America·Kay W Chang
Jan 19, 2016·Hearing Research·Qiujing ZhangQiuju Wang
Aug 22, 2012·International Journal of Pediatric Otorhinolaryngology·Nejat MahdiehSirous Zeinali
Feb 20, 2016·Nature Reviews. Neurology·Tobias Moser, Arnold Starr
Aug 21, 2012·American Journal of Medical Genetics. Part a·Mojgan BabanejadHossein Najmabadi
Jul 19, 2015·Postgraduate Medical Journal·Michael Parker, Maria Bitner-Glindzicz
Sep 10, 2013·Gene·Shujiro B MinamiTatsuo Matsunaga
Oct 18, 2014·Archives of Disease in Childhood·Michael Parker, Maria Bitner-Glindzicz
Sep 11, 2012·Trends in Neurosciences·Tina PangršičTobias Moser
Oct 13, 2018·Human Mutation·Andrea M OzaUNKNOWN ClinGen Hearing Loss Clinical Domain Working Group
Apr 2, 2013·Nihon Jibiinkoka Gakkai kaiho·Fumiyuki GotoHidenobu Taiji
Feb 29, 2020·Cells·Anna V Bulankina, Sven Thoms
Jun 2, 2020·Vestnik otorinolaringologii·M R LalayantsG A Tavartkiladze
Nov 10, 2018·Laryngoscope Investigative Otolaryngology·Makoto HosoyaKimitaka Kaga
Apr 16, 2020·Journal of Clinical Medicine·Romolo Daniele De SiatiNaïma Deggouj
Dec 2, 2020·Genes·Barbara VonaEllen Reisinger
Dec 26, 2019·International Journal of Pediatric Otorhinolaryngology·Raja A H KuchayMustafa Tekin
Oct 26, 2021·Frontiers in Cell and Developmental Biology·Yi-Ming ZhuXiang-Ping Li

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