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

Li Fu^1,2, Naomi Tsuchida^1,3, Yuri Uchiyama^1,3, Eriko Koshimizu¹, Kohei Hamanaka¹, Satoko Miyatake^1,4, Takeshi Mizuguchi¹, Atsushi Fujita¹, Naomichi Matsumoto^1,3,4 (1.Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama Japan, 2.Department of Obstetrics and Gynecology, Juntendo University Faculty of Medicine, Tokyo Japan, 3.Department of Clinical Genetics, Yokohama City University Hospital, Yokohama Japan, 4.Department of Rare Disease Genomics, Yokohama City University Hospital, Yokohama Japan)

Masanori Inoue¹, Wulan Apridita Sebastian¹, Hiroaki Miyahara², Nobuyuki Shimizu³, Miwako Maeda¹, Toshikatsu Hanada³, Reiko Hanada⁴, Kenji Ihara¹ (1.Department of Pediatrics, Oita University, Faculty of Medicine, Oita, Japan, 2.Department of Neuropathology, Institute for Medical Science of Aging, Aichi Medical University, Aichi, Japan, 3.Department of Cell Biology, Faculty of Medicine, Oita University, Oita, Japan, 4.Department of Neurophysiology, Faculty of Medicine, Oita University, Oita, Japan)

Kei Masai, Miwako Kizumi, Nami Bessho, Miwa Kobayashi, Miyu Fukushima, Kenta Hasumi, Sayuri Oda, Hiroyuki Kuramitsu, Yusuke Oguchi, Daiju Oba, Hirofumi Ohashi (Division of Medical Genetics, Saitama Childrenʼs Medical Center, Saitama, Japan)

Keidai Miyakawa, Takeru Nakabayashi, Riko Fujioka, Yuki Fujita, Satoshi Yuhara, Kenichiro Kori (SRL, Inc., Tokyo, Japan)

Miwako Kizumi, Nami Bessho, Kei Masai, Miwa Kobayashi, Miyu Fukushima, Kenta Hasumi, Sayuri Oda, Hiroyuki Kuramitsu, Yusuke Oguchi, Daiju Oba, Hirofumi Ohashi (Division of Medical Genetics, Saitama Childrenʼs Medical Center, Saitama, Japan)

Shinji Suzuki¹, Kazuyo Kiribayashi², Mai Yamada¹, Toshihiro Nakayama¹, Yasuyo Kashiwagi¹, Jingyi Dong², Sawako Matsumoto², Natsuko Inagaki^2,3, Daisuke Nakatou⁴, Kenjiro Kosaki⁴, Gaku Yamanaka¹, Hironobu Okuno^1,2,4 (1.Department of Pediatrics and Adolescent Medicine, Tokyo Medical University, Tokyo, Japan, 2.Department of Clinical Genetics Center, Tokyo Medical University, Tokyo, Japan, 3.Department of Cardiology, Tokyo Medical University, Tokyo, Japan, 4.Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan)

Fumihiko Fujii¹, Eriko Hatai², Yuji Ueno², Satoshi Akamine², Ryutaro Kira¹, Yasunari Sakai² (1.Department of Pediatric Neurology, Fukuoka Childrenʼs Hospital, Fukuoka, Japan, 2.Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan)

Keiko Takahashi¹, Sachiko Ohori^1,3, Naomi Araki¹, Asuka Hori⁵, Kenichiro Hata^2,5, Fumio Takada^1,4 (1.Division of Genetics, Kitasato University Hospital, Kanagawa, Japan, 2.Department of Molecular and Cellular Biology, Gunma University, Gunma, Japan, 3.Department of Laboratoy Medicine, St. Marianna University School of Medicine, Kanagawa, Japan, 4.Department of Medical Genetics and Genomics, Kitasato University Graduate School of Medical Sciences, Kanagawa, Japan, 5.Department of Maternal-Fetal Biology, National Reseach Institute for Child Health and Development, Tokyo, Japan)

Yasuko Kobari^1,2,3, Shozo Maeda², Yoko Takano², Naoya Saijo⁴, Tomohisa Suzuki⁵, Jun Takayama^1,5, Shigeo Kure^5,6, Atsuo Kikuchi^4,5, Gen Tamiya^1,5, Takumi Takizawa³ (1.Department of AI and Innovative Medicine, Tohoku University Graduate School of Medicine, 2.Department of Pediatrics, Isesaki Municipal Hospital, 3.Department of Pediatrics, Gunma University Graduate School of Medicine, 4.Department of Pediatrics, Tohoku University Graduate School of Medicine, 5.Department of Rare Disease Genomics, Tohoku University Graduate School of Medicine, 6.Miyagi Childrenʼs Hospital)

China Nagano¹, Kenichiro Miura², Motoshi Hattori², Naoya Fujita³, Asahi Yamamoto¹, Shuhei Aoyama¹, Yuka Kimura¹, Yuta Inoki¹, Nana Sakakibara¹, Tomoko Horinouchi¹, Tomohiko Yamamura¹, Shingo Ishimori¹, Kandai Nozu¹ (1.Kobe University, 2.Tokyo Womenʼs Medical University School of Medicine, 3.Aichi Childrenʼs Health and Medical Center)

Kazuyuki Matsushita (Department of Laboratory Medicine & Division of Clinical Genetics and Proteomics / Center for Cancer Genomes, Chiba University Hospital, Japan)

Atsuhiro Ozaki¹, Masamune Sakamoto^1,2,3, Satoko Kumada⁴, Fusako Yokochi⁵, Keisuke Hamada⁶, Kazuhiro Ogata⁶, Naomi Tsuchida^1,3, Yuri Uchiyama^1,3, Eriko Koshimizu¹, Atsushi Fujita¹, Satoko Miyatake^1,7, Takeshi Mizuguchi¹, Naomichi Matsumoto¹ (1.Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan, 2.Department of Pediatrics, Yokohama City University Graduate School of Medicine, Yokohama, Japan, 3.Department of Rare Disease Genomics, Yokohama City University Hospital, Yokohama, Japan, 4.Department of Neuropediatrics, Tokyo Metropolitan Neurological Hospital, Tokyo, Japan, 5.Department of Neurology, Tokyo Metropolitan Neurological Hospital, Tokyo, Japan, 6.Department of Biochemistry, Yokohama City University Graduate School of Medicine, Yokohama, Japan, 7.Department of Clinical Genetics, Yokohama City University Hospital, Yokohama, Japan)

Takayoshi Matsumura^1,2, Nobuaki Ito^3,4, Hajime Kato⁵, Soichiro Kimura^4,5, Mark J Kiel⁶, Amina Kozaric⁶, Michael Levine⁷, Carlos Ferreira⁸, Toshimi Michigami⁹ (1.Division of Cardiovascular and Genetic Research, Center for Molecular Medicine, Jichi Medical University, Tochigi, Japan, 2.Division of Cardiovascular Medicine, Department of Medicine, Jichi Medical University, Tochigi, Japan, 3.Division of Therapeutic Development for Intractable Bone Diseases, Graduate School of Medicine and Faculty of Medicine, The University of Tokyo, Tokyo, Japan, 4.Osteoporosis Center, The University of Tokyo Hospital, Tokyo, Japan, 5.Division of Nephrology and Endocrinology, The University of Tokyo Hospital, Tokyo, Japan, 6.Genomenon, Ann Arbor, MI, United States, 7.Center for Bone Health, Childrenʼs Hospital of Philadelphia, Philadelphia, PA, United States, 8.Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, United States, 9.Department on Bone and Mineral Research, Research Institute, Osaka Womenʼs and Childrenʼs Hospital, Osaka, Japan)

Yukina Hayashi¹, Juliet Taylor², Nerine Gregersen², Hitoshi Osaka³, Dorit Lev⁴, Tally Sagie⁴, Ifat Nezer-Kaner⁴, Patrick Yap², Wee Teik Keng⁵, Mei Yan Chan⁵, Mitsuhiro Kato⁶, Yasunari Sakai⁷, Kenta Kajiwara⁷, Katsuya Tashiro⁸, Li Fu^1,9, Kazuhiro Iwama^1,10, Qiaowei Liang¹, Naoto Nishimura¹, Suzuran Saito¹, Masamune Sakamoto^1,11, Yasuhiro Utsuno¹, Naomi Tsuchida^1,11, Yuri Uchiyama^1,11, Eriko Koshimizu¹, Kohei Hamanaka¹, Satoko Miyatake^1,12, Takeshi Mizuguchi¹, Atsushi Fujita¹, Naomichi Matsumoto¹ (1.Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan, 2.Genetic Health Service NZ, Northern Hub, Auckland City Hospital, Auckland, New Zealand, 3.Department of Pediatrics, Jichi Medical School, Tochigi, Japan, 4.Wolfson Medical Center, Holon, Israel, 5.Department of Genetics, Hospital Kuala Lumpur, Kuala Lumpur, Malaysia, 6.Department of Pediatrics, Showa Medical University School of Medicine, Tokyo, Japan, 7.Department of Pediatric and Developmental Medicine, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan, 8.Department of Pediatrics, Japanese Red Cross Karatsu Hospital, Saga, Japan, 9.Department of Obstetrics and Gynecology, Juntendo University, Tokyo, Japan, 10.Department of Pediatrics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan, 11.Department of Rare Disease Genomics, Yokohama City University Hospital, Yokohama, Kanagawa, Japan, 12.Department of Clinical Genetics, Yokohama City University Hospital, Yokohama, Kanagawa, Japan)

Akiko Abe¹, Seiichi Hayakawa², Asuka Toshida³, Shoko Okuda¹, Hirofumi Maruyama⁴, Takao Hinoi³, Satoshi Okada² (1.Department of Nursing, Hiroshima University Hospital, Hiroshima, Japan, 2.Department of Pediatrics, Graduate School of Biomedical and Health Sciences, Hiroshima University, Hiroshima, Japan, 3.Department of Clinical and Molecular Genetics, Hiroshima University Hospital, Hiroshima, Japan, 4.Department of Clinical Neuroscience and Therapeutics, Graduate School of Biomedical and Health Sciences, Hiroshima, Japan)

Yukitoshi Takahashi^1,2,3,4, Manami Yabe¹, Akiko Ota¹, Kentaro Tokumoto¹, Takashi Matsudaira¹, DRPLA Family Association⁵ (1.National Epilepsy Center, NHO, Shizuoka Institute of Epilepsy and Neurological Disorders, Shizuoka, Japan, 2.Department of Pediatrics, Gifu University School of Medicine, Japan, 3.School of Pharmaceutical Sciences, University of Shizuoka, Japan, 4.Department of Pediatrics, Gifu Municipal Hospital, 5.DRPLA Family Association)

Yuko Okawa¹, Nobue Tsukatani², Masanori Inoue^1,2, Muneaki Matsuo³, Rika Kosaki⁴, Kenichi Kashimada⁵, Keiichi Ozono^6,7, Hiroyuki Saitou⁷, Tatsuya Nakamichi⁷, Masanobu Fujimoto⁸, Noriyuki Namba⁸, Hidefumi Tonoki⁹, Yuko Murai¹⁰, Kenji Ihara^1,2 (1.Department of Pediatrics, Faculty of Medicine, Oita University, Oita, Japan, 2.Genetic Medical Center, Oita University Hospital, Oita, Japan, 3.Department of Pediatrics, Faculty of Medicine, Saga University, Saga, Japan, 4.Division of Medical Genetics, National Center for Child Health and Development, Tokyo, Japan, 5.Division of Endocrinology and Metabolism, National Center for Child Health and Development, Tokyo, Japan, 6.Center for Promoting Treatment of Intractable Diseases, Iseikai International General Hospital, Osaka, Japan, 7.Department of Pediatrics, Iseikai International General Hospital, Osaka, Japan, 8.Division of Pediatrics and Perinatology, Faculty of Medicine, Tottori University, Tottori, Japan, 9.Medical Genetics Center, Department of Pediatrics, Tenshi Hospital, Hokkaido, Japan, 10.Department of Pediatrics, Yaeyama Hospital, Okinawa, Japan)