Maiko Miyagawa1, Shin-Ya Nishio1, Mitsuru Hattori2, Hideaki Moteki1, Yumiko Kobayashi3, Hiroaki Sato3, Tomoo Watanabe4, Yasushi Naito5, Chie Oshikawa6, Shin-Ichi Usami7. 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 Otolaryngology-Head & Neck Surgery, Iwate Medical University, Morioka, Iwate, Japan. 4. Departments of Otolaryngology, Head and Neck Surgery, Yamagata University Faculty of Medicine, Yamagata, Japan. 5. Department of Otolaryngology, Kobe City Medical Center General Hospital, Kobe, Hyogo, Japan. 6. Department of Otorhinolaryngology, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan. 7. 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: Screening for MYO15A mutations was carried out using a large cohort to clarify the frequency and clinical characteristics of patients with MYO15A (DFNB3) mutations in a hearing loss population. METHODS: Genetic analysis of 63 previously reported deafness genes based on massively parallel DNA sequencing (MPS) in 1120 Japanese hearing loss patients from 53 otorhinolaryngology departments was performed. Detailed clinical features of the patients with MYO15A mutations were then collected and analyzed. RESULTS: Eleven patients from 10 families were found to have compound heterozygosity for MYO15A. Audiograms showed profound or high frequency hearing loss, with some patients showing progressive hearing loss. Age at onset was found to vary from 0 to 14 years, which seemed to be associated with the mutation. Four children underwent bilateral cochlear implantation for congenital hearing loss, with all showing good results. CONCLUSION: Mutations in the MYO15A gene are a notable cause of nonsyndromic hearing loss. MPS technology successfully detected mutations in relatively rare deafness genes such as MYO15A.
OBJECTIVES: Screening for MYO15A mutations was carried out using a large cohort to clarify the frequency and clinical characteristics of patients with MYO15A (DFNB3) mutations in a hearing loss population. METHODS: Genetic analysis of 63 previously reported deafness genes based on massively parallel DNA sequencing (MPS) in 1120 Japanese hearing losspatients from 53 otorhinolaryngology departments was performed. Detailed clinical features of the patients with MYO15A mutations were then collected and analyzed. RESULTS: Eleven patients from 10 families were found to have compound heterozygosity for MYO15A. Audiograms showed profound or high frequency hearing loss, with some patients showing progressive hearing loss. Age at onset was found to vary from 0 to 14 years, which seemed to be associated with the mutation. Four children underwent bilateral cochlear implantation for congenital hearing loss, with all showing good results. CONCLUSION: Mutations in the MYO15A gene are a notable cause of nonsyndromic hearing loss. MPS technology successfully detected mutations in relatively rare deafness genes such as MYO15A.
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Authors: Celia Zazo Seco; Mieke Wesdorp; Ilse Feenstra; Rolph Pfundt; Jayne Y Hehir-Kwa; Stefan H Lelieveld; Steven Castelein; Christian Gilissen; Ilse J de Wijs; Ronald Jc Admiraal; Ronald Je Pennings; Henricus Pm Kunst; Jiddeke M van de Kamp; Saskia Tamminga; Arjan C Houweling; Astrid S Plomp; Saskia M Maas; Pia Am de Koning Gans; Sarina G Kant; Christa M de Geus; Suzanna Gm Frints; Els K Vanhoutte; Marieke F van Dooren; Marie-José H van den Boogaard; Hans Scheffer; Marcel Nelen; Hannie Kremer; Lies Hoefsloot; Margit Schraders; Helger G Yntema Journal: Eur J Hum Genet Date: 2016-12-21 Impact factor: 4.246
Authors: Atteeq U Rehman; Jonathan E Bird; Rabia Faridi; Mohsin Shahzad; Sujay Shah; Kwanghyuk Lee; Shaheen N Khan; Ayesha Imtiaz; Zubair M Ahmed; Saima Riazuddin; Regie Lyn P Santos-Cortez; Wasim Ahmad; Suzanne M Leal; Sheikh Riazuddin; Thomas B Friedman Journal: Hum Mutat Date: 2016-08-21 Impact factor: 4.878