Maiko Miyagawa1, Shin-Ya Nishio1, Aya Ichinose2, Satoshi Iwasaki3, Takaaki Murata4, Shin-Ichiro Kitajiri5, Shin-Ichi Usami6. 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, Shinshu University School of Medicine, Matsumoto, Japan. 3. Department of Hearing Implant Sciences, Shinshu University School of Medicine, Matsumoto, Japan Department of Otorhinolaryngology, International University of Health and Welfare, Mita Hospital, Tokyo, Japan. 4. Department of Otorhinolaryngology, Gunma University School of Medicine, Maebashi, Japan. 5. Department of Otorhinolaryngology-Head and Neck Surgery, Graduate School of Medicine, Kyoto University, Kyoto, Japan. 6. 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: ACTG1 has been reported to be a causative gene for autosomal dominant sensorineural hearing loss, DFNA20/26. In this study we sought to clarify the detailed mutational spectrum, clinical features, and genotype-phenotype correlations. METHODS: Massively parallel DNA sequencing (MPS) of 63 target candidate genes was used to screen 1120 Japanese hearing loss patients. RESULTS: MPS screening successfully identified 4 ACTG1 mutations in 5 families. The majority of patients showed high frequency-involved progressive hearing loss, with the age of onset mostly in the first or second decade. One patient received electric acoustic stimulation (EAS), which showed a good outcome. CONCLUSIONS: Target exon-sequencing using MPS was proven to be a powerful new clinical diagnostic tool for the identification of rare causative genes such as ACTG1. The present clinical findings not only confirmed those previous reports but also provided important new clinical information.
OBJECTIVES:ACTG1 has been reported to be a causative gene for autosomal dominant sensorineural hearing loss, DFNA20/26. In this study we sought to clarify the detailed mutational spectrum, clinical features, and genotype-phenotype correlations. METHODS: Massively parallel DNA sequencing (MPS) of 63 target candidate genes was used to screen 1120 Japanese hearing losspatients. RESULTS:MPS screening successfully identified 4 ACTG1 mutations in 5 families. The majority of patients showed high frequency-involved progressive hearing loss, with the age of onset mostly in the first or second decade. One patient received electric acoustic stimulation (EAS), which showed a good outcome. CONCLUSIONS: Target exon-sequencing using MPS was proven to be a powerful new clinical diagnostic tool for the identification of rare causative genes such as ACTG1. The present clinical findings not only confirmed those previous reports but also provided important new clinical information.
Authors: Rui Gong; Fangfang Jiang; Zane G Moreland; Matthew J Reynolds; Santiago Espinosa de Los Reyes; Pinar Gurel; Arik Shams; James B Heidings; Michael R Bowl; Jonathan E Bird; Gregory M Alushin Journal: Sci Adv Date: 2022-07-20 Impact factor: 14.957