Session Details

[P2-08]Poster Session 2-08 Pediatric Genetics 2

Fri. Oct 11, 2024 6:00 PM - 7:00 PM JST
Fri. Oct 11, 2024 9:00 AM - 10:00 AM UTC
Poster Room

[P2-08-1]A family of Fabry disease diagnosed following positive optional newborn screening

Yukiko Tazaki, Shinsuke Maruyama, Koji Higuchi, Hiroaki Kobayashi (Kagoshima University Hospital)

[P2-08-2]A novel large in-frame deletion flanking exon 54 of the FBN1 gene in a Japanese girl with Marfan syndrome

Toshihiko Mori1, Shigeto Fuse2, Kazuna Hirai3, Maki Katai3, Hiroko Morisaki4 (1.Department of Pediatrics, NTT Medical Center Sapporo, Sapporo, Hokkaido, Japan, 2.Department of Laboratory, NTT Medical Center Sapporo, Sapporo, Hokkaido, Japan, 3.Department of Ophthalmology, NTT Medical Center Sapporo, Sapporo, Hokkaido, Japan, 4.Department of Clinical Genetics, Sakakibara Heart Institute Medical Examination clinic, Tokyo, Japan)

[P2-08-3]A trial of WGS-based CNV detection using Emedgene software

Toshiki Tsunogai1, Eri Imagawa1, Naoya Saijou2, Atsuo Kikuchi2, Jun Takayama3, Kimihiko Oishi1 (1.Department of Pediatrics, The Jikei University School of Medicine, Tokyo, Japan, 2.Department of Pediatrics, Tohoku University Hospital, 3.Department of Rare Disease Genomics, Tohoku University Graduate School of Medicine)

[P2-08-4]Zebrafish models for Loeys-Dietz syndrome

Rie Chida1, Genri Kawahara1, Mami Nakayashiki1, Hisashi Kawashima2, Gaku Yamanaka2 (1.Department of Pathophysiology, Tokyo Medical University, Tokyo, Japan, 2.Department of Pediatrics and Adolescent Medicine)

[P2-08-5]Exome sequencing identified glycogen storage disease type IV from a girl with unexpected findings

Mika Nakajima1, Tohru Ohta2, Hidefumi Tonoki3, Yuri Uchiyama4,5, Naomichi Matsumoto4 (1.Department of Pediatrics, Hakodate Central General Hospital, Hokkaido, Japan, 2.The Research Institute of Personalized Health Sciences, Health Sciences University of Hokkaido, 3.Department of Clinical Genetics, Tenshi Hospital, Hokkaido, Japan, 4.Department of Human Genetics, Yokohama City University, Kanagawa, Japan, 5.Department of Rare Disease Genomics, Yokohama City University Hospital, Kanagawa, Japan)

[P2-08-6]Exploring Genetic Factors in Congenital Diaphragmatic Hernia

Yuka Wada1, Yuri Uchiyama2,3, Kohei Hmanaka3, Kazuki Hatayama1, Hidehiko Maruyama1, Kazuhiro Kajiwara4, Jin Muromoto4, Rika Sugibayashi4, Katsusuke Ozawa4, Seiji Wada4, Tetsuya Isayama1, Yushi Ito1, Fukami Maki5, Naomichi Matsumoto3, Tsutomu Ogata6 (1.Department of Neonatology, Center for Maternal-Fetal, Neonatal and Reproductive Medicine, National Center for Child Health and Development, Tokyo,Japan, 2.Department of Rare Disease Genomics, Yokohama City University Hospital, 3.Department of Human Genetics, Yokohama City University Graduate School of Medicine, 4.Division of Fetal Medicine, Center for Maternal-Fetal, Neonatal and Reproductive Medicine, National Center for Child Health and Development, 5.Deputy Director, National Research Institute for Child Health and Development, 6.Departments of Pediatrics and Biochemistry, Hamamatsu University School of Medicine)

[P2-08-7]CACNA1H variants change channel properties and contribute to intractable epilepsy

Ayumi Matsumoto1,2, Go Kasuya3, Hidetoshi Tsuda1,2, Kei Wakabayashi2, Takahiro Ikeda2, Kazuhiro Muramatsu1, Koichi Nakajo3, Hitoshi Osaka2, Takatoshi Matsumura1 (1.Division of Human Genetics, Center for Molecular Medicine, Jichi Medical University, Shimotsuke, Japan, 2.Department of Pediatrics, Jichi Medical University, 3.Division of Integrative Physiology, Department of Physiology, Jichi Medical University, Shimotsuke, Japan)

[P2-08-8]Constitutional Mismatch Repair Deficiency Syndrome caused by compound heterozygous pathogenic variants MSH2 gene

Hiroko Shigetomi1, Ryo Hamada1, Yusuke Akane1, Akira Takebayashi1, Aki Ishikawa1,2, Masaki Yamamoto1, Shota Kato3, Yoshiko Nakano3, Motohiro Kato3, Takeshi Tsugawa1 (1.Department of Pediatrics, School of Medicine, Sapporo Medical University, Sapporo, Japan, 2.Department of Clinical Genetics, Sapporo Medical University Hospital, Sapporo, Japan, 3.Department of Pediatrics, School of Medicine, Tokyo University, Tokyo, Japan)

[P2-08-9]A case of infant with 16p12.2-11.2 deletion syndrome

Shuku Ishikawa1, Yoko Hoshino2, Aki Ishikawa3 (1.Department of Neonatology, Hokkaido Medical Center for Child Health and Rehabilitation, Sapporo, Japan, 2.Department of Pediatric Rehabilitation, Hokkaido Medical Center for Child Health and Rehabilitation, Sapporo, Japan, 3.Department of Medical Genetics and Genomics, School of Medicine, Sapporo Medical University, Sapporo, Japan)

[P2-08-10]An infantile case of 7p15.3p14.3 deletion with vertebral anomalies, cryptorchidism and pharyngeal stenosis

Kosuke Nishida1,2, Chisako Aoki1, Atsushi Nishiyama1,2, Toyu Go2, Takayuki Kodera2, Akihiro Takatera2, Takeshi Morisawa2, Tomomi Nishida1, Eiji Nanba1,3, Kunihiko Kaneda1 (1.Department of Medical Genetics, Kakogawa Central City Hospital, Hyogo, Japan, 2.Department of Pediatrics, Kakogawa Central City Hospital, Hyogo, Japan, 3.Ohtani Hospital, Seikenkai Medical Corporation, Okayama, Japan)

[P2-08-11]Clinical characterization of a patient with chromosome 20p11.2 deletion syndrome

Ryojun Takeda1,2, Yuma Shibuya3, Keisuke Nagasaki2,4, Kyoko Takano1,5,6, Keiko Wakui5,6, Tomoki Kosho1,5,6,7,8,9 (1.Department of Medical Genetics, Nagano Childrens Hospital, Azumino, Japan, 2.Life Science Research Center, Nagano Childrens Hospital, Azumino, Japan, 3.Department of Cardiology, Nagano Childrens Hospital, Azumino, Japan, 4.Department of Endocrinology and Metabolism, Nagano Childrens Hospital, Azumino, Japan, 5.Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan, 6.Center for Medical Genetics, Shinshu University Hospital, Matsumoto, Japan, 7.Division of Clinical Sequencing, Shinshu University School of Medicine, Matsumoto, Japan, 8.Research Center for Advanced Science and Technology, Shinshu University, Matsumoto, Japan, 9.BioBank Shinshu, Shinshu University Hospital, Matsumoto, Japan)

[P2-08-12]Diagnosis of CLN5 in a Japanese Individual with Severe Neurological Impairment Using Trio Whole Genome Sequencing

Eriko Nishi1, Kumiko Yanagi2, Kazumi Kawato1, Nobuhiko Okamoto1, Keiko Yanagihara3, Tadashi Kaname2 (1.Department of Medical Genetics, Osaka Women's and Children's Hospital, Osaka, Japan, 2.Department of Genome Medicine, National Center for Child Health and Development, Tokyo, Japan, 3.Department of child neurology, Osaka Women's and Children's Hospital, Osaka, Japan)

[P2-08-13]Evaluation of X chromosome inactivation using nanopore, a female case of HUWE1 duplication syndrome

Gen Furukawa1,2, Yui Shichiri2, Hiroki Kurahashi2 (1.Department of Pediatrics, Fujita Health University School of Medicine, Toyoake, Japan, 2.Division of Molecular Genetics, Center for Medical Science, Fujita Health University, Toyoake, Aichi, Japan)

[P2-08-14]Progression of psychiatric symptoms in adolescents and adults with Bainbridge-Ropers syndrome

Mie Inaba1, Natsuki Nakamura1, Shiomi Otsuji1, Tomoko Uehara1, Shin Hayash2, Toru Yoshikawa3, Kenjiro Kosaki4, Seiji Mizuno1 (1.Department of Pediatrics, Medical genetics, Aichi Developmental Disability Center Central Hospital, Aichi, Japan, 2.Department of Genetics, Institute for Developmental Research, Aichi Developmental Disability Center, Aichi, Japan, 3.Department of child psychiatry, Aichi Developmental Disability Center Central Hospital, Aichi, Japan, 4.Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan)

[P2-08-15]Five cases experiences for presymptomatic genetic testing for children

Kana Hiromoto1, Maki Taniguchi1, Kandai Nozu2, Naoya Morisada1,2,3 (1.Department of Genome Medical Center, Hyogo Prefectural Kobe Children's Hospital, 2.Department of Pediatrics, Kobe University Graduate School of Medicine, 3.Department of Clinical Genetics, Hyogo Prefectural Kobe Children's Hospital)

[P2-08-16]Chimerism in sexually discordant monochorionic dizygotic twins: a case report

Vlad Tocan1,2, Yumiko Taura2,3, Sawako Matsuzaki2, Akiko Ishikawa2, Taro Shimamoto1, Nozomi Abe1, Yuichi Mushimoto1,2, Mikiko Hashisako4, Kiyoko Kato2,3, Shouichi Ohga1,2 (1.Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, 2.Department of Clinical Genetics and Medicine, Kyushu University Hospital, 3.Department of Obstetrics and Gynecology, Graduate School of Medical Sciences, Kyushu University, 4.Department of Anatomic Pathology, Graduate School of Medical Sciences, Kyushu University)

[P2-08-17]Reciprocal chromosomal insertion caused by unexpected complex structural abnormalities

Hironao Shirai1,2, Keiko Yamamoto Shimojima3,4, Hirokazu Arai5, Yukio Sawaishi6, Toshiyuki Yamamoto1,3 (1.Division of Gene Medicine, Graduate School of Medicine, Tokyo Women's Medical University, 2.Department of Pediatrics, Kitasato University School of Medicine, 3.Institute of Medical Genetics, Tokyo Women's Medical University, 4.Department of Transfusion Medicine and Cell Processing, Tokyo Women's Medical University, 5.Department of Neonatology, Japanese Red Cross Akita Hospital, 6.Department of Pediatrics, Akita Prefectural Center on Development and Disability)

[P2-08-18]Missense variant in PDZ domain of DLG3 causes more severe syndromic X-linked intellectual developmental disorder

Shiomi Otsuji1, Kenichiro Yamada2, Seiji Mizuno1, Yasuyo Suzuki2, Natsuki Nakamura1, Tomoko Uehara1, Mamiko Yamada3, Hisato Suzuki3, Toshiki Takenouchi4, Kenjiro Kosaki3, Shin Hayashi2, Mie Inaba1 (1.Department of Pediatric Internal Medicine and Clinical genetics, Aichi Developmental Disability Center Central Hospital, Kasugai, Aichi, Japan, 2.Department of Genetics, Institute for Developmental Research, Aichi Developmental Disability Center, Kasugai, Aichi, Japan, 3.Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan, 4.Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan)

[P2-08-19]Craniometaphyseal dysplasia diagnosed by whole exome sequencing triggered by rickets-like findings

Hiroyuki Tanaka1,2, Kan Takahashi2, Natsuho Adachi1, Sachiko Kitanaka3 (1.Department of Pediatrics, The University of Tokyo, Tokyo, Japan, 2.Department of Pediatrics, Ome Medical Center, Tokyo, Japan, 3.Kitanaka Kids & Growth Clinic, Tokyo, Japan)

[P2-08-20]Pitfall in the interpretation of results in microarray chromosome testing

Shinsuke Maruyama1,2, Toshiro Ikeda2, Hiroki Kurahashi3 (1.Department of Pediatrics, Kagoshima University Hospital, Kagoshima, Japan, 2.Department of Genetic Counseling, Kagoshima University Hospital, Kagoshima, Japan, 3.Division of Molecular Genetics, Center for Medical Science, Fujita Health University, Aichi, Japan)

[P2-08-21]Utility, benefits, and risks of newborn genetic screening carrier reports for families

Xin Wang1, Yun Sun1, Jing-Yu Zhao2, Xian-Wei Guan1, Yan-Yun Wang1, Dong-Yang Hong1, Zhi-Lei Zhang1, Ya-Hong Li1, Pei-Ying Yang1, Tao Jiang1, Zheng-Feng Xu1 (1.Genetic Medicine Center, Women’s Hospital of Nanjing Medical University, 2.Clin Lab, BGI Genomics)

[P2-08-22]Next-Generation Sequencing Based Newborn Genomic Screening: Impact on Lysosomal Storage Disorders

Xin Wang, Yun Sun, Xian-Wei Guan, Yan-Yun Wang, Dong-Yang Hong, Zhi-lei Zhang, Tao Jiang, Zheng-feng Xu (Genetic Medicine Center, Women’s Hospital of Nanjing Medical University)