Keita Tsukada1, Aya Ichinose1, Maiko Miyagawa2, Kentaro Mori1, Mitsuru Hattori1, Shin-Ya Nishio2, Yasushi Naito3, Shin-Ichiro Kitajiri4, Shin-Ichi Usami5. 1. Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Japan. 2. Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Japan Department of Hearing Implant Sciences, Shinshu University School of Medicine, Matsumoto, Japan. 3. Department of Otorhinolaryngology, Kobe City Medical Center General Hospital, Hyogo, Japan. 4. Department of Otolaryngology, Head and Neck Surgery, Kyoto University Graduate School of Medicine, Kyoto, Japan. 5. Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Japan Department of Hearing Implant Sciences, Shinshu University School of Medicine, Matsumoto, Japan usami@shinshu-u.ac.jp.
Abstract
OBJECTIVES: To evaluate the clinical features of Japanese DFNA9 families with mutations of the COCH gene. METHODS: Mutation screening was performed using targeted next-generation sequencing (NGS) for 63 previously reported deafness genes. The progression of hearing loss and vestibular dysfunction were evaluated by pure-tone audiometry, caloric testing, cVEMP, and computed dynamic posturography. RESULTS: We detected 1 reported mutation of p.G88E and 2 novel mutations of p.I372T and p.C542R. The patients with the novel mutations of p.I372T and p.C542R within the vWFA2 domain showed early onset progressive hearing loss, and the patients with the p.G88E mutation showed late onset hearing loss and acute hearing deterioration over a short period. Vestibular symptoms were reported in the patients with p.G88E and p.C542R. Vestibular testing was performed for the family with the p.G88E mutation. Severe vestibular dysfunction was observed in the proband, and the proband's son showed unilateral semicircular canal dysfunction with mild hearing loss. CONCLUSIONS: Targeted exon resequencing of selected genes using NGS successfully identified mutations in the relatively rare deafness gene, COCH, in the Japanese population. The phenotype is compatible with that described in previous reports. Additional supporting evidence concerning progressive hearing loss and deterioration of vestibular function was obtained from our study.
OBJECTIVES: To evaluate the clinical features of Japanese DFNA9 families with mutations of the COCH gene. METHODS: Mutation screening was performed using targeted next-generation sequencing (NGS) for 63 previously reported deafness genes. The progression of hearing loss and vestibular dysfunction were evaluated by pure-tone audiometry, caloric testing, cVEMP, and computed dynamic posturography. RESULTS: We detected 1 reported mutation of p.G88E and 2 novel mutations of p.I372T and p.C542R. The patients with the novel mutations of p.I372T and p.C542R within the vWFA2 domain showed early onset progressive hearing loss, and the patients with the p.G88E mutation showed late onset hearing loss and acute hearing deterioration over a short period. Vestibular symptoms were reported in the patients with p.G88E and p.C542R. Vestibular testing was performed for the family with the p.G88E mutation. Severe vestibular dysfunction was observed in the proband, and the proband's son showed unilateral semicircular canal dysfunction with mild hearing loss. CONCLUSIONS: Targeted exon resequencing of selected genes using NGS successfully identified mutations in the relatively rare deafness gene, COCH, in the Japanese population. The phenotype is compatible with that described in previous reports. Additional supporting evidence concerning progressive hearing loss and deterioration of vestibular function was obtained from our study.
Authors: Sebastien P F JanssensdeVarebeke; Guy Van Camp; Nils Peeters; Ellen Elinck; Josine Widdershoven; Tony Cox; Kristof Deben; Katrien Ketelslagers; Tom Crins; Wim Wuyts Journal: Eur J Hum Genet Date: 2018-02-15 Impact factor: 4.246
Authors: Barbara J Burgess; Jennifer T O'Malley; Takefumi Kamakura; Kris Kristiansen; Nahid G Robertson; Cynthia C Morton; Joseph B Nadol Journal: Audiol Neurootol Date: 2016-03-30 Impact factor: 1.854
Authors: Kyung Seok Oh; Daniel Walls; Richard J Smith; Jae Young Choi; Heon Yung Gee; Jinsei Jung; Sun Young Joo; Jung Ah Kim; Jee Eun Yoo; Young Ik Koh; Da Hye Kim; John Hoon Rim; Hye Ji Choi; Hye-Youn Kim; Seyoung Yu Journal: Hum Genet Date: 2021-09-16 Impact factor: 5.881
Authors: Jonas De Belder; Stijn Matthysen; Annes J Claes; Griet Mertens; Paul Van de Heyning; Vincent Van Rompaey Journal: Front Neurosci Date: 2018-01-09 Impact factor: 4.677