Session Details
[O17]Clinical Genetics 2
Fri. Nov 20, 2026 3:30 PM - 4:30 PM JST
Fri. Nov 20, 2026 6:30 AM - 7:30 AM UTC
Fri. Nov 20, 2026 6:30 AM - 7:30 AM UTC
Room 3 (Exhibition Hall 1-B, Exhibition Building, Sendai International Center)
Chair: Chisen Takeuchi (Department of Clinical Genetics, The Jikei University Hospital), Tetsuya Okazaki (Department of Clinical Genomic Medicine, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University)
[O17-01]A case report of hereditary transthyretin amyloidosis with transthyretin p.Thr80Ala in Japanese family
Naotaka Uchida1,3, Miho Takeshita1, Koji Matsuda2, Mihoko Yamada3, Takako Suda3 (1. Department of Medical Genetics, Matsue City Hospital, Shimane, Japan, 2. Department of Cardiology, Matsue City Hospital, 3. Department of Breast and Endocrine Surgery, Matsue City Hospital)
[O17-02]Varporter-based AI system for pathogenicity assessment of germline variants by comprehensive genomic profiling in cancer
Masashi Idogawa1, Kohichi Takada2, Akihiro Sakurai3 (1. Division of Medical Genome Sciences, Department of Genomic and Preventive Medicine, Sapporo Medical University, 2. Division of Medical Oncology, Department of Internal Medicine, Sapporo Medical University, 3. Division of Clinical Genomics, Department of Genomic and Preventive Medicine, Sapporo Medical University)
[O17-03]A novel de novo RBBP5 variant impairs KMT2D-SET binding and clusters within the Kabuki syndrome episignature
Takuya Naruto1, Tomoko Satake1, Yumi Enomoto1, Kenji Kurosawa2, Yukiko Kuroda2 (1. Clinical Research Institute, Kanagawa Children's Medical Center, 2. Division of Medical Genetics, Kanagawa Children's Medical Center)
[O17-04]Initiation of a prospective study on clinical management of Fabry disease identified through newborn screening
Masatoshi Yamaguchi1,2, Koutaro Doi1,2, Kana Nakashima3, Minayo Iwai1, Chiharu Terakawa1, Satoru Meiri4, Takao Konomoto4, Hirotake Sawada5, Kinuko Yamamoto3, Masao Kikuchi3, Takashi Sugiyama6, Katsuya Sakai6, Toshihiro Tsuruda3, Nozomi Watanabe7, Hidenobu Ochiai8, Shinji Katsuragi2 (1. Division of Clinical Genetics, University of Miyazaki Hospital, 2. Department of Obstetrics and Gynecology, University of Miyazaki Hospital, 3. Division of Cardiovascular Medicine and Nephrology, Department of Internal Medicine, University of Miyazaki, 4. Department of Pediatrics, University of Miyazaki Hospital, 5. Division of Fundamental Nursing, Department of Fundamental and Community Nursing Science, School of Nursing, Faculty of Medicine, University of Miyazaki, 6. Division of Neurology, Department of Internal Medicine, University of Miyazaki Hospital, 7. Heart and Vascular Center, University of Miyazaki Hospital, 8. Advanced Emergency and Critical Care Center, University of Miyazaki Hospital)
[O17-05]Genomic Re-evaluation of an Xp11.3 Deletion in a Man Reveals a Contiguous Gene Deletion Syndrome Involving KDM6A and RP2
Motoko Kamiya1,2,3, Akiko Sakyu1, Kyoko Takano1,2, Tomoki Kosho1,2,4 (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 Pediatrics, Shinshu University School of Medicine, Matsumoto, Japan, 4. Division of Clinical Sequencing, Shinshu University School of Medicine, Matsumoto, Japan)
[O17-06]Common features and differences among three cases of myotonic dystrophy first suspected during pregnancy
Shoko Saito1, Hasumi Tomita1, Kokin Uchibori1, Yusaku Kumagai1, Hirotaka Hamada1, Mari Tadakawa1, Noriyuki Iwama1, Maako Sasaki2, Mari Tsubata2, Yoko Aoki2, Masatoshi Saito1 (1. Department of Obstetrics and Gynecology, Tohoku University Hospital, Miyagi, Japan, 2. Department of Medical Genetics, Tohoku University School of Medicine)