Session Details

[P1-03]Pediatric 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 (3) (Exhibition Hall 1-A+2, Exhibition Building, Sendai International Center)

[P1-03-01]A case of atypical Rubinstein-Taybi syndrome associated with CREBBP mosaic deletion and EP300 variant.

Hidenobu Kaneyasu1, Fumitaka Kouno1, Yuji Ohnishi1, Naoko Okayama2, Yutaka Suehiro2,3, Shunji Hasegawa1 (1. Department of Pediatrics, Yamaguchi University Graduate School of Medicine, Yamaguchi, Japan, 2. Division of Medical Genetics, Yamaguchi University Hospital, Yamaguchi, Japan, 3. Department of Oncology and Laboratory Medicine, Yamaguchi University Graduate School of Medicine, Ube, Japan)

[P1-03-02]Clinical significance of whole-genome sequencing in fatal infant cases

Sachiko Ohori1,2, Sumire Sakai2, Nami Kyoi2, Minami Ozawa2,3, Yuki Suzuki2, Ai Motoyoshi2,4, Satomi Mitsuhashi5, Manami Suzuki3, Shiori Komachi3, Ayako Matsunaga3, Isamu Hokuto3, Naoki Shimizu3, Yoshihisa Yamano5,6, Ohsuke Migita1,2,3 (1. Department of Laboratory Medicine, St Marianna University School of Medicine, Kanagawa, Japan, 2. Department of Clinical Genetics, St Marianna University Hospital, Kanagawa, Japan, 3. Department of Pediatrics, St Marianna University School of Medicine, Kanagawa, Japan, 4. Department of Breast and Endocrine Surgery, St. Marianna University School of Medicine, Kanagawa, Japan, 5. Department of Neurology, St. Marianna University School of Medicine, Kanagawa, Japan, 6. Department of Rare Disease Research, St. Marianna University School of Medicine, Kanagawa, Japan)

[P1-03-03]A case of 1q deletion and 5q duplication with refractory atopic dermatitis and eosinophilic gastroenteritis

Keita Osumi1, Yuka Yotsumoto1, Takeshi Yoshinaga2, Daigo Kato2, Yuka Hattori1, Miwako Nagasaka1, Tomoko Tamaoki1 (1. Center for Clinical and Molecular Genetics, Takatsuki General Hospital, Takatsuki, Japan, 2. Department of Pediatrics, Takatsuki General Hospital, Takatsuki, Japan)

[P1-03-04]Clinical features and disease course of a Japanese boy with GEMIN5-related neurodevelopmental disorder

Eriko Nishi1, Kumiko Yanagi2, Tadashi Kaname2, Nobuhiko Okamoto1 (1. Department of Medical Genetics, Osaka Women's and Children's Hospital, Osaka, Japan, 2. Department of Genome Medicine, National Research Institute for Child Health and Development, Tokyo, Japan)

[P1-03-05]Whole-genome sequencing analysis of complex structural variants in 9p deletion and duplication syndrome

Suzuran Saito1, Eriko Koshimizu1, Atsushi Fujita1, Akihiko Miyauchi2, Naomi Tsuchida1,3, Yuri Uchiyama1,3, Masamune Sakamoto1, Kohei Hamanaka1, Satoko Miyatake1,4, Takeshi Mizuguchi1, Kenjiro Kosaki5, Hitoshi Osaka2, Naomichi Matsumoto1,3,4,6 (1. Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan, 2. Department of Pediatrics, Jichi Medical School, Shimotsuke, Tochigi, Japan, 3. Department of Rare Disease Genomics, Yokohama City University Hospital, Yokohama, Japan, 4. Department of Clinical Genetics, Yokohama City University Hospital, Yokohama, Japan, 5. Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan, 6. Medical Genome Center, National Center of Neurology and Psychiatry, Tokyo, Japan)

[P1-03-06]A Case of a Novel TUBB3 Gene Variant Associated with Spastic Quadriplegia, EEG Abnormalities, and Cortical Dysplasia

Rina Shimomura1,2, Megumi Ueda2,3, Keiko Yamamoto Shimojima4, Kaoru Eto2,5, Keiko Ishigaki2 (1. Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan, 2. Department of Pediatrics, Tokyo Women's Medical University, Tokyo, Japan, 3. Division of Gene Medicine, Graduate School of Medical Science, Tokyo Women's Medical University, Tokyo, Japan, 4. Department of Transfusion Medicine and Cell Processing, Tokyo Women's Medical University, Tokyo, Japan, 5. Department of Pediatrics, Adachi Medical Center, Tokyo Women's Medical University, Toyko, Japan)

[P1-03-07]Identification of a hemizygous IRS4 pathogenic variant in a Japanese patient with central congenital hypothyroidism

Sumito Dateki1,2, Midori Motokawa2, Haruka Kawamura2, Kohei Haraguchi2, Yukino Kashiwabara3, Riko Matsuda3, Hiroyuki Mishima4, Koh-ichiro Yoshiura4 (1. Department of Pediatrics, Nagasaki University Graduate School of Biomedical Sciences, 2. Department of Pediatrics, Nagasaki University Hospital, 3. Department of Genetic Counseling, Clinical Genomics Center, Nagasaki University Hospital, 4. Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences)

[P1-03-08]A mild form of RORA-related neurodevelopmental disorder in a Japanese patient with hypotonia and cerebellar ataxia

Kohei Haraguchi1, Yukino Kashiwabara2, Riko Matsuda2, Hiroyuki Mishima3, Koh-ichiro Yoshiura3, Sumito Dateki1 (1. Department of Pediatrics, Nagasaki University Hospital, Nagasaki, Japan, 2. Department of Genetic Counseling, Clinical Genomics Center, Nagasaki University Hospital, Nagasaki, Japan, 3. Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan)

[P1-03-09]Unexpected Death with Autopsy Findings of Right Heart Failure in PCGF2-Related Disorder: Expanding Phenotypic Spectrum

Yutaka Otobe1, Daisuke Nakato3,4, Masazumi Miyahara2, Hiromasa Uchizono4, Atsushi Kohso1, Hiroyuki Ohashi1, Hirofumi Sawada1, Chikako Nishida5, Toshiki Takenouchi6, Kenjiro Kosaki7, Hirokazu Kotani8, Masahiro Ogawa3,4 (1. Department of Pediatrics, Mie University Hospital, Mie, Japan, 2. Pediatrics, Okanami General Hospital, Mie, Japan, 3. Clinical Research Institute, National Hospital Organization Mie Chuo Medical Center, Mie, Japan, 4. Department of Pediatrics, National Hospital Organization Mie Chuo Medical Center, Mie, Japan, 5. Department of Precision Cancer Medicine, Institute of Science Tokyo Hospital, Tokyo, Japan, 6. Department of Pediatric Neurology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama, Japan, 7. Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan, 8. Department of Forensic Medicine and Sciences, Mie University Graduate School of Medicine, Tsu, Japan)

[P1-03-10]A case of Activated PI3Kδ Syndrome Type 1 with Thyroid Autoimmunity and Renal Involvement

Kazuhiko Takeuchi1,2, Ryotaro Hashizume3 (1. Department of Otorhinolaryngolgoy and Head & Neck Surgery, Mie University, Mie, Japan, 2. Department of Otorhinolaryngology, Matsusaka Central General Hospital, 3. Department of Pathology and Matrix Biology, Mie University)

[P1-03-11]Valvular Heart Disease in Geleophysic Dysplasia: Surgical and Perioperative Challenges in Three Pediatric Cases

Mika Saito1, Kanako Kishiki1, Satoshi Yazaki1, Hitomi Kimura1, Yuriko Shima1, Yu Matsumura1, Tomomi Uyeda1, Tadahiro Yoshikawa1, Hikoro Matsui1, Naoki Wada2, Hiroko Morisaki3 (1. Department of Pediatric Cardiology, Sakakibara Heart Institute, Tokyo, Japan, 2. Department of Pediatric Cardiovascular Surgery, 3. Department of Medical Genetics)

[P1-03-12]Compound heterozygous B3GALT6 variants in an infant with severe short stature and achondroplasia-like features

Tomohiro Hori1,2,3, Mai Mori1,2,3, Hideki Matsumoto1,3, Hideo Sasai1,2,3,4, Kazuo Kubota1,2,3, Michio Ozeki1,3, Norio Kawamoto1,3, Hidenori Ohnishi1,2,3 (1. Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Japan, 2. Clinical Genetics Center, Gifu University Hospital, Gifu, Japan, 3. Laboratory of Intractable and Rare Diseases, Graduate School of Medicine, Gifu University, Gifu, Japan, 4. Department of Early Diagnosis and Preventive Medicine for Rare Intractable Pediatric Diseases, Graduate School of Medicine, Gifu University, Gifu, Japan)

[P1-03-13]Interpretation of 3q29 Copy Number Loss: A Diagnostic Pitfall in Chromosomal Microarray Analysis

Midori Hijikata, Chihiro Mukai, Yuki Sato, Hidetoshi Go, Takeaki Tamura, Takayuki Imaizumi, Kazumasa Fuwa, Nobuhiko Nagano, Aya Okahashi, Ichiro Morioka (Department of Pediatrics and Child Health, Nihon University School of Medicine)

[P1-03-14]Retrospective Study of Foramen Magnum Development in Patients With Achondroplasia Starting Vosoritide Before Age Three

Nakagawa Marie1, Natsuho Adachi1, Motoyuki Umekawa2, Hirotaka Hasegawa2, Keita Okada3, Hiroyuki Tanaka1 (1. Department of Pediatrics, The University of Tokyo Hospital, Tokyo, Japan, 2. Department of Neurosurgery, The University of Tokyo Hospital, 3. Department of Orthopaedic Surgery, The University of Tokyo Hospital)