High frequency of OTOF mutations in Chinese infants with congenital auditory neuropathy spectrum disorder

Clinical Genetics
Q-J ZhangQ-J Wang

Abstract

Auditory neuropathy spectrum disorder (ANSD) is one of the most common diseases leading to hearing and speech communication barriers in infants and young children. The OTOF gene is the first gene identified for autosomal recessive non-syndromic ANSD, and patients with OTOF mutations have shown marked improvement of auditory functions from the cochlear implantation, but the true involvement of OTOF mutations in Chinese ANSD patients is still unknown which precludes the effective management of this disease. Here, we investigated the contribution of OTOF mutations to congenital ANSD patients in China. In all, 37 infants and young Children with ANSD were screened for all the exons of OTOF gene, of them 34 patients had no neonatal risk factors who were considered as congenital ANSD. The clinical manifestation and audiometric features were also investigated and compared in patients with and without OTOF mutations. In all, 14 of these subjects were shown to carry two or three mutant alleles of OTOF with the high frequency of 41.2% in congenital ANSD patients. In total, 15 novel pathogenic mutations and 10 reported mutations were identified. Our results confirmed that mutations in OTOF gene were a major cause of congenital ANSD in Chin...Continue Reading

References

Jun 1, 1996·Brain : a Journal of Neurology·A StarrC I Berlin
Oct 21, 2000·Journal of Basic and Clinical Physiology and Pharmacology·A StarrH Pratt
Nov 25, 2003·Human Mutation·Montserrat Rodríguez-BallesterosIgnacio del Castillo
Aug 13, 2005·American Journal of Medical Genetics. Part a·Mustafa TekinArmagan Incesulu
May 23, 2009·Journal of Human Genetics·Jihane RomanosRegina Célia Mingroni-Netto
Mar 13, 2010·Audiology & Neuro-otology·Yu-Hsun ChiuChuan-Jen Hsu
Dec 2, 2010·Genetic Testing and Molecular Biomarkers·Duygu DumanMustafa Tekin
Dec 24, 2010·International Journal of Pediatric Otorhinolaryngology·Vinaya K C ManchaiahRachel Duprey
Aug 22, 2012·International Journal of Pediatric Otorhinolaryngology·Nejat MahdiehSirous Zeinali
Sep 24, 2013·BMC Medical Genetics·Yoh-ichiro IwasaShin-ichi Usami
Apr 2, 2014·Journal of Speech, Language, and Hearing Research : JSLHR·Linda W Norrix, David S Velenovsky
Jan 19, 2016·Hearing Research·Qiujing ZhangQiuju Wang

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Citations

Jun 9, 2020·Frontiers in Neuroscience·Dandan Zheng, Xiao Liu
Jul 19, 2020·Gene Therapy·Zhen ZhangFeng Liu
Dec 2, 2020·Genes·Barbara VonaEllen Reisinger

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