Abstract
Temperature sensitive auditory neuropathy is a very rare and puzzling disorder. In the present study, we reported three unrelated 2 to 6 year-old children who were diagnosed as auditory neuropathy patients who complained of severe hearing loss when they had fever. Their hearing thresholds varied from the morning to the afternoon. Two of these patients' hearing improved with age, and one patient received positive results from cochlear implant. Genetic analysis revealed that these three patients had otoferlin (OTOF) homozygous or compound heterozygous mutations with the genotypes c.2975_2978delAG/c.4819C>T, c.4819C>T/c.4819C>T, or c.2382_2383delC/c.1621G>A, respectively. Our study suggests that these gene mutations may be the cause of temperature sensitive auditory neuropathy. The long term follow up results suggest that the hearing loss in this type of auditory neuropathy may recover with age.
References
Jul 10, 1998·Ear and Hearing·A StarrH J Michalewski
Oct 21, 2000·Journal of Basic and Clinical Physiology and Pharmacology·A StarrH Pratt
Sep 11, 2002·Archives of Otolaryngology--head & Neck Surgery·Colm MaddenDaniel I Choo
Nov 25, 2003·Human Mutation·Montserrat Rodríguez-BallesterosIgnacio del Castillo
Dec 23, 2004·The Journal of Physiology·Stuart L JohnsonCorné J Kros
Oct 18, 2005·International Journal of Pediatric Otorhinolaryngology·I RouillonN Loundon
Dec 16, 2005·The Journal of Neuroscience : the Official Journal of the Society for Neuroscience·Andreas BrandtTobias Moser
Dec 24, 2005·Journal of Medical Genetics·R VargaW J Kimberling
Jun 14, 2006·International Journal of Pediatric Otorhinolaryngology·Ioannis PsarommatisNikolaos Apostolopoulos
Oct 24, 2006·Cell·Isabelle RouxChristine Petit
May 22, 2007·Journal of the Neurological Sciences·José L Jiménez, Rumaisa Bashir
Aug 25, 2007·The Journal of Physiology·Régis Nouvian
Nov 14, 2008·The Journal of Biological Chemistry·Neeliyath A RamakrishnanDennis G Drescher
May 23, 2009·Journal of Human Genetics·Jihane RomanosRegina Célia Mingroni-Netto
Jan 8, 2010·International Journal of Audiology·Charles I BerlinStefan A Frisch
Mar 17, 2010·Biochemical and Biophysical Research Communications·Sandrine MarlinFrançoise Denoyelle
May 28, 2010·BMC Medical Genetics·Da-Yong WangQiu-Ju Wang
May 12, 2012·Clinical Genetics·T MatsunagaK Kaga
Sep 11, 2012·Trends in Neurosciences·Tina PangršičTobias Moser
Mar 22, 2014·Korean Journal of Audiology·Ji Hun EomHo Ki Lee
Citations
Jan 29, 2016·Clinical Genetics·Q-J ZhangQ-J Wang
Feb 7, 2020·The Anatomical Record : Advances in Integrative Anatomy and Evolutionary Biology·Shin-Ichi UsamiHidekane Yoshimura
Feb 29, 2020·Cells·Anna V Bulankina, Sven Thoms
Jun 2, 2020·Vestnik otorinolaringologii·M R LalayantsG A Tavartkiladze
Jan 7, 2018·Human Genetics·Lisbeth TranebjærgMaria Bitner-Glindzicz
Aug 3, 2017·Clinical Otolaryngology : Official Journal of ENT-UK ; Official Journal of Netherlands Society for Oto-Rhino-Laryngology & Cervico-Facial Surgery·C C WuC M Wu
Jun 9, 2020·Frontiers in Neuroscience·Dandan Zheng, Xiao Liu
Dec 2, 2020·Genes·Barbara VonaEllen Reisinger
Apr 29, 2021·Ear and Hearing·Rosamaria SantarelliIgnacio Del Castillo
Oct 26, 2021·Frontiers in Cell and Developmental Biology·Yi-Ming ZhuXiang-Ping Li
Dec 21, 2021·International Journal of Audiology·Ali A AlmishaalOsamah Alhelo