^○Miki Asahina, Tomoko Matsubayashi, Tokiko Fukuda (Department of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu, Japan)

^○Yasuko Nakamura, Hiroshi Matsumoto, Kiyotaka Zaha, Kenji Uematu (Departments of Pediatrics,National Defense Medical College Hospital,Tokorozawa,Japan)

^○Ayumi Matsumoto¹, Hitoshi Osaka¹, Nozomu Kitahara³, Eri Imagawa², Noriko Miyake², Naomichi Matsumoto², Takanori Yamagata¹ (1.Department of Pediatrics, Jichi medical university, Tochigi, Japan, 2.Department of human genetics, Yokohama city university graduated school of medicine, Yokohama, Japan, 3.Department Pediatrics, Tochigi Medical Center, Tochigi, Japan)

^○Abe Chihiro^1,2, Ayako Umemura¹, Yuki Maki¹, Naoko Kurahashi¹, Keitaro Yamada¹, Koichi Maruyama¹, Kosaburo Aso¹, Hirotomo Saitsu³ (1.Department of Pediatric Neurology, Aichi Prefectural Colony Central Hospital, Kasugai, Japan, 2.Department of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya, Japan, 3.Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan)

^○Osamu Kawano, Kiyoshi Egawa, Tomoshiro Ito, Hideaki Shiraishi (Department of Pediatrics, Graduate School of Medicine, Hokkaido University, Sapporo, Japan)

^○Setsuri Yokoi^1,2, Makiko Tsutsumi², Fuyuki Miya³, Masafumi Miyata⁴, Mitsuhiro Kato⁵, Nobuhiko Okamoto⁶, Tatsuhiko Tsunoda³, Mami Yamasaki⁷, Yonehiro Kanemura⁸, Kenjiro Kosaki⁹, Shinji Saitoh¹⁰, Hiroki Kurahashi² (1.Aichi Prefectural Aoitori Medical and Rehabilitation Center for Developmental Disabilities, Nagoya, Japan, 2.Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Toyoake, Japan, 3.Department of Medical Science Mathematics, Medical Research Institute, Tokyo Medical and Dental University, Tokyo, Japan, 4.Department of Pediatrics, Fujita Health University School of Medicine, Toyoake, Japan, 5.Department of Pediatrics, Showa University School of Medicine, Tokyo, Japan, 6.Department of Medical Genetics, Osaka Medical Center and Research Institute for Maternal and Child Health, Osaka, Japan, 7.Department of Pediatric Neurosurgery, Takatsuki General Hospital, Osaka, Japan, 8.Division of Regenerative Medicine, Institute for Clinical Research, Osaka National Hospital, National Hospital Organization, Osaka, Japan, 9.Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan, 10.Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan)

^○Mie Inaba¹, Yukako Muramatsu^1,2, Hiroko Taniai^1,3, Norie Nonobe⁴, Hiroki Kurahashi⁵, Seiji Mizuno¹ (1.Department of Pediatrics, Central Hospital Aichi Human Service Center, Aichi, Japan, 2.Department of pediatrics, Nagoya University, Aichi, Japan, 3.Central Care Center for Disabled Children City of Nagoya, Aichi, Japan, 4.Department of ophthalmology, Nagoya University, Aichi, Japan, 5.Division of Molecular Genetics Institute for Comprehensive Medical Science, Fujita Health University, Aichi, Japan)

^○Naoko Kurahashi¹, Seiji Mizuno², Mie Inaba², Hirokazu Kurahashi³, Yuki Maki¹, Chihiro Abe-hatano¹, Keitaro Yamada¹, Koichi Maruyama¹, Masayo Kagami⁴, Kenji Kurosawa⁵, Miho Nakamura⁶ (1.Department of Pediatric Neurology, Aichi Prefectural Colony Central Hospital, Kasugai, Japan, 2.Department of Pediatrics, Aichi Prefectural Colony Central Hospital, Kasugai, Japan, 3.Department of Pediatrics, Aichi Medical University, Nagakute, Japan, 4.Department of Endocrinology and Metabolism, National Research Institute for Child Health and Development, Tokyo, Japan, 5.Division of Medical Genetics, Clinical Research Institute, Kanagawa Children's Medical Center, Yokohama, Japan, 6.Department of Functioning Science, Institute for Developmental Research, Aichi Human Service Center, Kasugai, Japan)