The 70th Annual Meeting of the Japan Society of Human Genetics

Masamune Sakamoto^1,2,3, Kenji Kurosawa⁴, Koji Tanoue⁵, Kazuhiro Iwama^1,6, Fumihiko Ishida⁶, Yoshihiro Watanabe⁷, Saoko Takeshita⁸, Nobuhiko Okamoto⁹, Naomi Tsuchida^1,3, Yuri Uchiyama^1,3, Eriko Koshimizu¹, Atsushi Fujita¹, Satoko Miyatake^1,10, Takeshi Mizuguchi¹, Naomichi Matsumoto¹ (1.Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan, 2.Department of Pediatrics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan, 3.Department of Rare Disease Genomics, Yokohama City University Hospital, Yokohama, Japan, 4.Division of Medical Genetics, Kanagawa Childrenʼs Medical Center, Yokohama, Japan, 5.Department of General Medicine, Kanagawa Childrenʼs Medical Center, Yokohama, Japan, 6.Perinatal Center for Maternity and Neonate, Yokohama City University Medical Center, Yokohama, Japan, 7.Childrenʼs Medical Center, Yokohama City University Medical Center, Yokohama, Japan, 8.Department of Child Neurology, Yokohama Medical and Welfare Center Konan, Yokohama, Japan, 9.Department of Medical Genetics, Osaka Womenʼs and Childrenʼs Hospital, Izumi, Japan, 10.Department of Clinical Genetics, Yokohama City University Hospital, Yokohama, Japan)

Hideki Mutai^1,2, Yukiko Kuroda³, Shinobu Noji³, Saki Ichikawa^4,5,8, Koichi Matsuo³, Satoshi Tanaka⁵, Naoyuki Kataoka⁵, Masato Fujioka^1,6, Tatsuo Matsunaga^2,7 (1.Molecular Genetics, Kitasato Univ. School of Medicine, Kanagawa, Japan, 2.National Institute of Sensory Organs, NHO Tokyo Medical Center, Tokyo, Japan, 3.Lab. Cell and Tissue Biology, Keio Univ. School of Medicine, Tokyo, Japan, 4.Dept. Biophysics and Biochemistry, Faculty of Science, Univ. Tokyo, Tokyo, Japan, 5.Lab. Cellular Biochemistry Dept. Animal Resource Sciences / Veterinary Medical Sciences, Graduate School of Agricultural and Life Sceinces, Univ. Tokyo, Tokyo, Japan, 6.Keio University Regenerative Medicine Research Center, Tokyo, Japan, 7.Medical Genetics Center, NHO Tokyo Medical Center, Tokyo, Japan, 8.Graduate School of Pharmaceutical Sciences, Univ. Tokyo, Tokyo, Japan)

Haruka Murakami¹, Satomi Inoue¹, Kiyomitsu Nara², Reiko Muramatsu², Kayo Momozawa², Natsumi Yoshida², Yumika Fue², Yoko Karino², Hideki Mutai^2,3, Syujiro Minami⁴, Kazuki Yamazawa¹, Tatsuo Matsunaga^1,2,4 (1.Department of Medical Genetics, NHO Tokyo Medical Center, Tokyo, Japan, 2.Division of Hearing and Balance Research, NHO Tokyo Medical Center, Tokyo, Japan, 3.Molecular Genetics, Kitasato University School of Medicine, Kanagawa, Japan, 4.Department of Otorhinolaryngology, NHO Tokyo Medical Center, Tokyo, Japan)

Shusuke Yasuura¹, Yuji Miyoshi¹, Kengo Murata², Mikio Takamori² (1.Department of Genomic Medicine, Tokyo Metroporitan Tama Medical Center, Tokyo, Japan, 2.Department of Respiratory Medicine & Oncology, Tokyo Metroporitan Tama Medical Center, Tokyo, Japan)

Tomoko Satake¹, Yasuhiro Kawai², Koki Nagai², Takuya Naruto¹, Yukiko Kuroda² (1.Clinical Research Institute, Kanagawa Childrenʼs Medical Center, Yokohama, Japan, 2.Division of Medical Genetics, Kanagawa Childrenʼs Medical Center, Yokohama, Japan)

Naoto Nishimura¹, Takeshi Mizuguchi¹, Keisuke Hamada², Kotaro Yuge³, Masamune Sakamoto^1,4, Naomi Tsuchida^1,4, Yuri Uchiyama^1,4, Atsushi Fujita¹, Eriko Koshimizu¹, Kazuharu Misawa^5,6, Satoko Miyatake^1,7, Yoriko Watanabe^3,8, Hitoshi Osaka⁹, Koh-Ichiro Yoshiura¹⁰, Kazuhiro Ogata^2,11, Naomichi Matsumoto^1,4,7 (1.Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan, 2.Department of Biochemistry, Yokohama City University Graduate School of Medicine, Yokohama, Japan, 3.Department of Pediatrics and Child Health, Kurume University School of Medicine, Kurume, Japan, 4.Department of Rare Disease Genomics, Yokohama City University Hospital, Yokohama, Japan, 5.Yokohama City University Graduate School of Data Science, Yokohama, Japan, 6.RIKEN Center for Advanced Intelligence Project, Tokyo, Japan, 7.Department of Clinical Genetics, Yokohama City University Hospital, Yokohama, Japan, 8.Research Institute of Medical Mass Spectrometry, Kurume University School of Medicine, Kurume, Japan, 9.Department of Pediatrics, Jichi Medical University, Tochigi, Japan, 10.Department of Human Genetics and Leading Medical Research Core Unit, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan, 11.Graduate School, International University of Health and Welfare, Tokyo, Japan)

Kyoko Takano^1,2, Kumiko Yanagi^3,4, Yuji Inaba⁵, Tomomi Yamaguchi^1,2,6, Keiko Wakui^1,2, Tomoki Kosho^1,2,6,7,8 (1.Center for Medical Genetics, Shinshu University Hospital, Matsumoto, Japan, 2.Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan, 3.Department of Genome Medicine, National Center for Child Health and Development, Tokyo, Japan, 4.Initiative on Rare and Undiagnosed Diseases in Pediatrics, Tokyo, Japan, 5.Division of Neuropediatrics, Nagano Childrenʼs Hospital, Azumino, Japan, 6.Division of Clinical Sequencing, Shinshu University School of Medicine, Matsumoto, Japan, 7.Research Center for Supports to Advanced Science, Shinshu University, Matsumoto, Japan, 8.BioBank Shinshu, Shinshu University Hospital, Matsumoto, Japan)

Toshihiko Iwaki^1,2, Yosuke Nishio^2,3, Masanori Fujimoto², Emi Sato^2,6, Yuji Nakamura^2,4, Daisuke Ieda², Sachiyo Takagi^5,7, Yutaka Negishi², Ayako Hattori^2,8, Tomoo Ogi³, Shinji Saitoh² (1.Department of Pediatrics, Gamagori City Hospital, Gamagori, Japan, 2.Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan, 3.Department of Genetics, Research Institute of Environmental Medicine, Nagoya University, Nagoya, Japan, 4.Department of Neurosciences, School of Medicine, University of California, San Diego, La Jolla, CA, USA, 5.Department of Geriatric and Environmental Dermatology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan, 6.Department of Pediatrics, Aichi Prefectural Welfare Federation of Agricultural Cooperatives Kainan Hospital, Yatomi, Japan, 7.Department of Dermatology, Nagoya City University Mirai Kousei Hospital, Nagoya, Japan, 8.Department of Pediatrics, Nagoya City University East Medical Center, Nagoya, Japan)

Rose Maria Mathew¹, Tsutomu Kouno², Keiichi Iwaya³, Haruhiko Sugimura⁴, Hirofumi Nakaoka⁵ (1.Department of Cancer Genome Research, Sasaki Institute, Sasaki Foundation, Tokyo, Japan, 2.Department of Medical Oncology, Kyoundo Hospital, Sasaki Foundation, Tokyo, Japan, 3.Department of Pathology, Kyoundo Hospital, Sasaki Foundation, Tokyo, Japan, 4.Kyoundo Hospital, Sasaki Foundation, Tokyo, Japan, 5.Department of Biomedical Data Science, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan)