Maiko Miyagawa1, Shin-Ya Nishio1, Kozo Kumakawa2, Shin-Ichi Usami3. 1. Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Japan Department of Hearing Implant Sciences, Shinshu University School of Medicine, Matsumoto, Japan. 2. Department of Otorhinolaryngology, Toranomon Hospital, Tokyo, Japan. 3. 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 elucidate the involvement of MYO6 mutations, known to be responsible for DFNA22/DFNB37, in Japanese hearing loss patients through the use of genetic analysis. METHODS: Genomic variations responsible for hearing loss were identified by massively parallel DNA sequencing (MPS) of 63 target candidate genes in 1120 Japanese hearing loss patients, and the detailed clinical features for the patients with MYO6 mutations were collected and analyzed. RESULTS: Four mutations were successfully found in 7 families exhibiting autosomal dominant inheritance. All of the patients showed progressive hearing loss, but hearing type and onset age varied. Further, none of the affected patients showed any associated symptoms, such as hypertrophic cardiomyopathy or retinitis pigmentosa. CONCLUSIONS: MPS is powerful tool for the identification of rare causative deafness gene mutations, such as MYO6. The clinical characteristics noted in the present study not only confirmed the findings of previous reports but provided important new clinical information.
OBJECTIVES: To elucidate the involvement of MYO6 mutations, known to be responsible for DFNA22/DFNB37, in Japanese hearing losspatients through the use of genetic analysis. METHODS: Genomic variations responsible for hearing loss were identified by massively parallel DNA sequencing (MPS) of 63 target candidate genes in 1120 Japanese hearing losspatients, and the detailed clinical features for the patients with MYO6 mutations were collected and analyzed. RESULTS: Four mutations were successfully found in 7 families exhibiting autosomal dominant inheritance. All of the patients showed progressive hearing loss, but hearing type and onset age varied. Further, none of the affected patients showed any associated symptoms, such as hypertrophic cardiomyopathy or retinitis pigmentosa. CONCLUSIONS:MPS is powerful tool for the identification of rare causative deafness gene mutations, such as MYO6. The clinical characteristics noted in the present study not only confirmed the findings of previous reports but provided important new clinical information.
Authors: Mieke Wesdorp; Pia A M de Koning Gans; Margit Schraders; Jaap Oostrik; Martijn A Huynen; Hanka Venselaar; Andy J Beynon; Judith van Gaalen; Vitória Piai; Nicol Voermans; Michelle M van Rossum; Bas P Hartel; Stefan H Lelieveld; Laurens Wiel; Berit Verbist; Liselotte J Rotteveel; Marieke F van Dooren; Peter Lichtner; Henricus P M Kunst; Ilse Feenstra; Ronald J C Admiraal; Helger G Yntema; Lies H Hoefsloot; Ronald J E Pennings; Hannie Kremer Journal: Hum Genet Date: 2018-05-12 Impact factor: 4.132
Authors: Parvathy Venugopal; Lucia Gagliardi; Cecily Forsyth; Jinghua Feng; Kerry Phillips; Milena Babic; Nicola K Poplawski; Hugh Young Rienhoff; Andreas W Schreiber; Christopher N Hahn; Anna L Brown; Hamish S Scott Journal: BMC Med Genet Date: 2020-02-17 Impact factor: 2.103