Abstract
X-linked deafness is a rare cause of hereditary isolated hearing impairment estimated as at least 1% or 2% of the non-syndromic hearing loss. To date, four loci for DFN have been identified and only one gene, POU3F4 responsible for DFN3, has been cloned. In males, DFN3 is characterized by a progressive deafness associated with perilymphatic gusher at stapes surgery and with a characteristic inner ear malformation. The phenotype of eight independent females carrying POU3F4 anomalies is defined, and a late-onset hearing loss is found in three patients. Only one has an inner ear malformation. No genotype/phenotype correlation is identified.
References
Jan 1, 1991·Neuroradiology·P D PhelpsL Luxom
Nov 1, 1983·International Journal of Pediatric Otorhinolaryngology·C W Cremers, P L Huygen
Feb 3, 1995·Science·Y J de KokF P Cremers
Sep 1, 1996·Human Molecular Genetics·Y J de KokF P Cremers
Feb 6, 1999·European Journal of Radiology·E PapadakiN Gourtsoyiannis
Aug 28, 1999·Science·O MinowaT Noda
Sep 9, 2000·Archives of Otolaryngology--head & Neck Surgery·B ArellanoF Moreno
Jun 14, 2002·Hearing Research·An-Ping XiaKatsuhisa Ikeda
Citations
Jun 3, 2011·Journal of Human Genetics·Ali M WaryahSaima Riazuddin
Apr 23, 2013·Human Mutation·Thomas ParzefallKaren B Avraham
May 5, 2016·Case Reports in Otolaryngology·Tirth R Patel, Aaron C Moberly
Sep 2, 2015·BMC Medical Genetics·M GiordanoM Bozzola
May 1, 2015·BMC Medical Genetics·Guney BademciMustafa Tekin
Sep 1, 2016·The Laryngoscope·Ayako KannoTatsuo Matsunaga
Dec 13, 2016·PloS One·Agnieszka PollakRafał Płoski
Aug 27, 2016·AJNR. American Journal of Neuroradiology·M-L HoH D Curtin
Jan 5, 2017·Chinese Medical Journal·Wan DuQiu-Ju Wang
Jan 22, 2011·The Annals of Otology, Rhinology, and Laryngology·Konstantina M StankovicLeila A Mankarious
Oct 6, 2018·PloS One·Constantia AristidouCarolina Sismani
Sep 7, 2019·Chinese Medical Journal·Hong-Min WuShan-Kai Yin
May 30, 2020·AJNR. American Journal of Neuroradiology·R HongY Pan
Mar 13, 2014·Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology·Jin Woong ChoiByung Yoon Choi
Mar 9, 2013·Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology·Woo Seok KangKwang-Sun Lee
Sep 5, 2018·BMC Medical Genetics·Yu SuPu Dai
May 1, 2021·Genes·Ahmet M TekinVedat Topsakal
Jun 17, 2021·Ear and Hearing·Henrik SmedsUlrika Löfkvist