Session Details

[P1-08]Clinical Genetics 1

Thu. Nov 19, 2026 4:00 PM - 5:00 PM JST
Thu. Nov 19, 2026 7:00 AM - 8:00 AM UTC
Exhibition Hall 1-A+2 (8) (Exhibition Hall 1-A+2, Exhibition Building, Sendai International Center)

[P1-08-01]Two unrelated families with upstream MSX2 non-coding duplications refine a cranial bone regulatory region

Mamiko Yamada1,2, Mark Cleghorn2,3, Prabhakara Krishnamurthy2,3, Tegan French2,3, David Francis2,3, Tiong Tan2,4 (1. Federation of National Public Service Personnel Mutual Aid Associations Tachikawa Hospital, 2. Victorian Clinical Genetics Services, Parkville, Australia, 3. Murdoch Children's Research Institute, Parkville, Australia, 4. Department of Paediatrics, University of Melbourne, Melbourne, Australia)

[P1-08-02]ANKRD17-related disorder presenting with short stature and congenital heart disease resembling Noonan syndrome

Daisuke Watanabe1,2, Hideaki Yagasaki1,3, Hiromune Narusawa1,3, Tamao Shinohara1,2, Chihiro Onomichi1, Yasue Horiuchi1, Hiroki Ishiguro1, Miho Nagata4, Ayumi Yonei5, Kenich Yamamoto6, Yoshihiro Asano4, Takeshi Inukai3 (1. Center for Genetic Diseases, University of Yamanashi Hospital, Yamanashi, Japan, 2. Department of Neonatology, Perinatal Center, Yamanashi Prefectural Central Hospital, Yamanashi, Japan, 3. Department of Pediatrics, Yamanashi University, Yamanashi, Japan, 4. Department of Cardiovascular Medicine, The Osaka University Graduate School of Medicine, Osaka, Japan, 5. Department of Genetic Counseling, The Osaka University Hospital, Osaka, Japan, 6. Division of Health Sciences, The University of Osaka Graduate School of Medicine, Osaka, Japan)

[P1-08-03]Genetic screening of a retinitis pigmentosa family with compound heterozygous variants in EYS gene

Miki Hiraoka1,2,3, Mio Mukainakano2, Honami Fujita2, Sachiko Miyazaki2, Ryo Ando3, Susumu Ishida3, Takahiro Yamada2 (1. Ophthalmology Dept. Health Sciences Univ of Hokkaido, Sapporo, Japan, 2. Division of clinical genetics, Hokkaido Univ. Hospital, Sapporo, Japan, 3. Ophthalmology Dept. Hokkaido Univ., Sapporo, Japan)

[P1-08-04]Association of BRCA and HRD Status with Hematologic Toxicity during Initial Chemotherapy for Ovarian Cancer

Kosuke Yoshida, Hajime Araki, Yurika Yamada, Yoshiki Masahashi, Emiri Miyamoto, Komei Katayama, Mei Kubokawa, Kazumasa Mogi, Masato Yoshihara, Yukari Nagao, Satoshi Tamauchi, Akira Yokoi, Nobuhisa Yoshikawa, Kaoru Niimi, Hiroaki Kajiyama (Department of Obstetrics and Gynecology, Nagoya University, Nagoya, Japan)

[P1-08-05]A case of intellectual disability male with Xq28 microduplication telomeric to MECP2 inherited from the carrier mother

Shinsuke Ninomiya1, Yoshiyuki Hanaoka2, Takahiro Hayashi2, Toshiyuki Yamamoto3 (1. Department of Clinical Genetics, Kurashiki Central Hospital, Okayama, Japan, 2. Department of Pediatrics, Kurashiki Central Hospital, Okayama, Japan, 3. Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan)

[P1-08-06]Osteoporosis as complication in a 41-Year-Old Male with Rubinstein-Taybi Syndrome Caused by a CREBBP Frameshift Variant

Tatsuro Kondoh1, Yoshikazu Ninomiya1, Masafumi Fukuda1, Hiroyuki Mishima2, Koichiro Yoshiura2, Kohei Haraguchi3, Noriko Miyake3 (1. Dvision of Develomental Disabilities, The Misakaenosno Mutsumi Developmental, Medical and Welfare Center, 2. Department of Human Genetics, Nagasaki University, 3. Department of Pediatrics, Nagasaki University Hospital)

[P1-08-07]A Case of Metachronous Bilateral Breast Cancer with an LZTR1 Pathogenic Variant Identified by Multigene Panel Testing

Sadia Matsutani1, Kaori Tane1,2, Hiromi Sugawara1, Risa Goto1, Saki Hinoshita1,3, Motoko Fujisaki1,4, Yuki Sako1,4, Miyuki Kawamura1,4, Mitsunori Morita1,4, Hideki Sakai1,4, Takuma Onoe1,4, Kyoko Ikeuchi1,4, Koichi Hirokaga1,2, Takashi Shibutani1,5, Mayu Ukai1,5, Shohei Tanabe1,5, Keisuke Ichida1,5, Mayuka Mitsuoka1,5, Kazuo Tamura1, Koji Matsumoto1,4 (1. Division of Clinical Genetics, Hyogo Cancer Center, Hyogo, Japan, 2. Division of Breast Surgery, Hyogo Cancer Center, 3. Department of Nursing, Hyogo Cancer Center, 4. Department of Medical Oncology, Hyogo Cancer Center, 5. Department of Gynecologic Oncology, Hyogo Cancer Center)

[P1-08-08]Establishment of the Genetic Counseling Room and Future Prospects

Toshiyuki Kakinuma1,2, Ayako Ono1, Maria Masuda1, Maria Masuda1, Chinatsu Miyazawa2, Yuki Tojo2, Takuya Kitamura2, Jun Takeuchi2, Midori Tamura2, Ai Motoyoshi1,3, Seido Takae4, Nao Suzuki4 (1. St. Marianna University School of Medicine, Kanagawa, Japam, 2. Department of Obstetrics and Gynecology, St. Marianna University School of Medicine, Yokohama City Seibu Hospital, 3. Department of Gastroenterology & General Surgery, St. Marianna University School of Medicine, Yokohama City Seibu Hospital, 4. Department of Obstetrics and Gynecology, St. Marianna University School of Medicine)

[P1-08-09]Two Cases of Down Syndrome Regression Disorder Treated with Oral Corticosteroids

Marina Asamoto, Toshiyuki Yamamoto (Department of Genomic Medicine. Tokyo Women's Medical University, Tokyo, Japan)

[P1-08-10]Long-read analysis of RFC1 AAAGG repeat expansions in spinocerebellar degeneration and hereditary spastic paraplegia.

Chika Matsuoka1, Hiroyuki Ishiura1, Junko Hirase2, Yoshiki Yasukochi2, Yoshiyuki Matsuo3, Yumi Nakada1, Akinori Kinoshita1, Tomoaki Nada1, Masahiro Ishida1, Tomohito Kawano1, Ken Ikegami1, Emi Nomura1, Yosuke Osakada1, Koh Tadokoro1, Mami Takemoto1, Yusuke Fukui1, Taijun Yunoki1, Ryuta Morihara1,4, Koichiro Higasa2, Toru Yamashita4 (1. Department of Neurology, Okayama University, 2. Department of Genome Analysis, Institute of Biomedical Science, Kansai Medical University, 3. Central Research Center, Institute of Biomedical Science, Kansai Medical University, 4. Department of Neurology, Faculty of Medicine, Academic Research Division, University of Toyama)

[P1-08-11]Clinical and genetic evaluation of 335 individuals with intellectual disabilities: 12-years experiences of "ID clinic"

Kyoko Takano1,2, Motoko Kamiya1,2,3, Tomomi Yamaguchi1,2,4, Keiko Wakui1,2, Ryojun Takeda5, Kumiko Yanagi6,7, Tadashi Kaname6,7, Tomoki Kosho1,2,4,8,9 (1. Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan, 2. Center for Medical Genetics, Shinshu University Hospital, 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, 5. Department of Medical Genetics, Nagano Children's Hospital, Azumino, Japan, 6. Department of Genome Medicine, National Center for Child Health and Development, Tokyo, Japan, 7. Initiative on Rare and Undiagnosed Diseases, Tokyo, Japan, 8. Research Center for Supports to Advanced Science, Shinshu University, Matsumoto, Japan, 9. BioBank Shinshu, Shinshu University Hospital, Matsumoto, Japan)

[P1-08-12]Discordant PALB2 Pathogenic Variants Between Tumor-Only CGP and Germline Single-Site Testing

Fumie Fujisawa1, Chikako Yamauchi2,3, Tomoyuki Goto1,2, Yusuke Miyajima1,2, Wakako Tsuji4 (1. Department of Medical Oncology, Shiga General Hospital, Shiga, Japan, 2. Center of Medical Genetics, 3. Department of Radiation Oncology, 4. Department of Breast Surgery)

[P1-08-13]Predominantly Genital-Limited Phenotype of Pediatric Haploinsufficiency of A20

Yuri Sonoda1,2, Mayuka Shiraki3, Motoshi Sonoda4, Hidenori Ohnishi3, Kenji Furuno1 (1. Department of Pediatrics, Japanese Red Cross Fukuoka Hospital, Fukuoka, Japan, 2. Division of Genomic Medicine, Japanese Red Cross Fukuoka Hospital, 3. Department of Pediatrics, Gifu University Graduate School of Medicine, 4. Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University)