Session Details

[P2-04]Poster Session 2-04 Rare Diseases 1

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

[P2-04-1]Functional analysis of SATB2 variants associated with SATB2-associated syndrome

Nao Ukita1, Takuya Ogawa1, Mamiko Yamada2, Chisen Takeuchi3, Kenjiro Kosaki2, Keiji Moriyama1 (1.Department of Maxillofacial Orthognathics, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU), Tokyo, Japan, 2.Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan, 3.Department of Genetic Medicine, The Jikei University, Tokyo, Japan)

[P2-04-2]Analysis of bone repair process using mouse model of musculocontractural Ehlers-Danlos syndrome

Yuki Takahashi1,2, Takahiro Yoshizawa3, Fumiko Ono1, Tomoki Kosho1,2,4,5,6 (1.Department of Medical Genetics, Shinshu University School of Medicine, Nagano, Japan, 2.Division of Clinical Sequencing, Shinshu University School of Medicine, Nagano, Japan, 3.Division of Animal Research, Research Center for Advanced Science and Technology, Shinshu University, Nagano, Japan, 4.Center for Medical Genetics, Shinshu University Hospital, Nagano, Japan, 5.Research Center for Advanced Science and Technology, Shinshu University, Nagano, Japan, 6.BioBank Shinshu, Shinshu University Hospital, Nagano, Japan)

[P2-04-3]Low cost analysis using nanopore sequencing for cut point of deletions

Akane Inomoto, Junichi Hosokawa, Sakae Itoga, Osamu Ohara (Department of Applied Genomics, Kazusa DNA Research Institute, Chiba, Japan)

[P2-04-4]Fetal and neonatal symptoms in musculocontractural Ehlers-Danlos syndrome: the first registry-based study

Yuka Yonehara1, Tomomi Yamaguchi2, Tomoki Kosho1,2,3,4,5 (1.Center for Medical Genetics, Shinshu University Hospital, 2.Department of Medical Genetics, Shinshu University School of Medicine, 3.Research Center for Supports to Advanced Science, Shinshu University, 4.Division of Clinical Sequencing, Shinshu University School of Medicine, 5.BioBank Shinshu, Shinshu University Hospital)

[P2-04-5]A novel complex structural abnormality of the FLNA gene identified in a patient with periventricular nodular heterotopia

Kumiko Yanagi1, Masahiko Yamamori1, Arisa Igarashi1, Takaya Iida1, Taiga Aoki1, Yumi Enomoto1, Yoichi Matsubara1, Akira Ishiguro2, Tadashi Kaname1 (1.Department of Genome Medicine, National Center for Child Health and Development, Tokyo, Japan, 2.Center for Postgraduate Education and Training, National Center for Child Health and Development, Tokyo, Japan)

[P2-04-6]A Case of Lethal Multiple Pterygium Syndrome with Compound Heterozygous Variants in the CHAT Gene

Miwako Nagasaka1,2, Yuka Yotsumoto1,2, Hiroaki Hanafusa3, Naoya Morisada3,4, Kandai Nozu3, Tomoko Tamaoki1 (1.Center for Clinical and Molecular Genetics, Takatsuki General Hospital, 2.Department of Pediatrics, Takatsuki General Hospital, 3.Department of Pediatrics, Kobe University Graduate School of Medicine, 4.Department of Clinical Genetics, Hyogo Prefectural Kobe Children's Hospital)

[P2-04-7]A case of bartter syndrome type 4a with polyhydramnios and a novel splice site mutation in postpartum genetic testing

Motoharu Shimizu1, Shinichiro Yabe1, Sho Satou1, Sumie Fujinuma3, Yosuke Gomi1, Hazuki Satou1, Tatsuya Narita1, Yukiko Itaya1, Sumiko Era1, Shigetaka Matsunaga2, Tomonori Nagai2, Kandai Nozu4, Kikuchi Akihiko1, Yasushi Takai2 (1.Center for Maternal, Fetal, and Neonatal Medicine, Saitama Medical Center, Saitama, Japan, 2.Department of Obstetrics and Gynecology, Saitama Medical Center, Saitama Medical University, 3.Division of Neonatal Medicine, Center for Maternal, Fetal and Neonatal Medicine, Saitama Medical Center, Saitama Medical University, 4.Department of Pediatrics, Kobe University Graduate School of Medicine)

[P2-04-8]A Case of Multiple Endocrine Neoplasia type 2A with malignant paraganglioma

Atsushi Ozawa1,2,3, Yuri Kondo3, Aya Osaki1,3, Takuya Watanabe1, Kenichiro Hata1 (1.Division of Genetics, Gunma University Hospital, 2.Gunma University Graduate School of Health Sciences, 3.Department of Internal Medicine, Division of Endocrinology and Metabolism, Gunma University Graduate School of Medicine)

[P2-04-9]A case with neurodorsaloid lipofuscinosis type 8 that was difficult to diagnose despite multiple genetic tests

Minami Ozawa1,2, Ohsuke Migita2,3, Maho Ogiwara2, Yoshihisa Yamano4,5, Noriko Miyake6, Naoki Shimizu1 (1.Department of Pediatrics,St. Marianna University School of Medicine, Kanagawa,Japan, 2.Department of Genetic Medicine,St. Marianna University School of Medicine, Kanagawa,Japan, 3.Department of Clinical Laboratory Medicine and Genetic Analysis,St. Marianna University School of Medicine, Kanagawa,Japan, 4.Genomic Medicine Promotion Center,St. Marianna University School of Medicine, Kanagawa,Japan, 5.Department of Neurology, St. Marianna University School of Medicine,St. Marianna University School of Medicine, Kanagawa,Japan, 6.Department of Human Genetics, Research Institute, National Center for Global Health and Medicine, Tokyo, Japan)

[P2-04-10]A case of CDKL5 deficiency disorder diagnosed by whole genome sequencing

Sachiko Ohori1,2, Yuika Ono1, Maho Ogiwara1, Shoka Shu1, Minami Ozawa1,3, Satomi Mitsuhashi4, Noriko Miyake5, Ohsuke Migita1,2,3, Yoshihisa Yamano4 (1.Department of Clinical genetics, St. Marianna University Hospital, Kawasaki, Japan, 2.Department of Laboratory Medicine, St. Marianna University School of Medicine, Kawasaki, Japan, 3.Department of Pediatrics, St. Marianna University School of Medicine, Kawasaki, Japan, 4.Department of Neurology, St. Marianna University School of Medicine, Kawasaki, Japan, 5.Department of Human Genetics, National Center for Global Health and Medicine, Tokyo, Japan)

[P2-04-11]A case of hypophosphatasia with difficulties in genetic counseling due to the lack of parental genetic information

Satoshi Shibata1, Kohei Kitada1,2, Mayu Kurokawa3, Kensaku Nakai3, Taiki Kikuchi1, Syotaro Yamamoto1, Tomohiro Yoshida2, Yasushi Kurihara1, Akihiro Hamuro1, Takuya Misugi1, Akemi Nakano1, Eri Sakai2, Ono Chie2, Yukiko Jyogu2, Haruka Bamba2, Mie Tahara1,2, Toshiyuki Seto2, Daisuke Tachibana1, Toshiyuki Sumi1,2 (1.Obstetrics and Gynecology, Osaka Metropolitan University , Osaka, Japan, 2.Department of Genomic Medicine, Osaka Metropolitan University, Osaka, Japan, 3.Obstetrics and Gynecology, Izumiotsu City Hospital, Osaka, Japan)

[P2-04-12]A case report of a severe phenotype of Genitopatellar syndrome with necrotizing enterocolitis

Tomoko Nagahara1,2, Hiroyuki Miyahara2, Kentaro Shirai3, Chihiro Takase2, Tsunanori Shidei2, Tsutomu Kondo2, Toshiyuki Yamamoto4 (1.Department of Pediatrics, Nerima Hikarigaoka Hospital, 2.Department of Neonatal Intensive Care Unit, Tsuchiura Kyodo General Hospital, 3.Department of Pediatrics, Tsuchiura Kyodo General Hospital, 4.Institude of Medical Genetics, Tokyo Womens Medical University)

[P2-04-13]A case of Metaphyseal chodromatosis with D-2-Hydroxyglutaric aciduria in which bone X-ray assisted the diagnosis

Shiori Komachi1, Ayako Matsunaga1, Maho Ogiwara2, Yuika Ono2, Yuuki Saito3, Atsuko Fujikawa3, Ousuke Migita3 (1.Department of Pediatrics, St Marianna University, Kanagawa, Japan, 2.Department of Clinical Genetics, St Marianna University, Kanagawa, Japan, 3.Department of Human Radiology, St Marianna University, Kanagawa, Japan)

[P2-04-14]A case of craniofacial microsomia with a de novo PUF60 variant

Takuya Ogawa1, Jingyi Xue2,3, Long Guo2,4, Maristela Sayuri Inoue-Arai1, Siulan Vendramini-Pittoli5, Roseli Maria Zechi-Ceide5, Rosana Maria Candido-Souza5, Cristiano Tonello6, Michele Madeira Brandão6, Terumi Okada Ozawa7, Adriano Porto Peixoto7, Daniela Maria Cury Ferreira Ruiz8, Nakashima Tomoki9, Shiro Ikegawa2, Keiji Moriyama1, Nancy Mizue Kokitsu-Nakata5 (1.Department of Maxillofacial Orthognathics, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, Japan, 2.Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan, 3.Department of Pharmacology, School of Basic Medical Sciences, Beijing Key Laboratory of Metabolic Disturbance Related Cardiovascular Disease, Capital Medical University, Beijing, China, 4.Department of Laboratory Animal Science, School of Basic Medical Sciences, Xi'an Jiaotong University, Xi'an, China, 5.Department of Clinical Genetics, Hospital for Rehabilitation of Craniofacial Anomalies, University of São Paulo, Bauru, São Paulo, Brazil, 6.Department of Craniofacial Surgery, Hospital for Rehabilitation of Craniofacial Anomalies, University of São Paulo, Bauru, São Paulo, Brazil, 7.Department of Orthodontics, Hospital for Rehabilitation of Craniofacial Anomalies, University of São Paulo, Bauru, São Paulo, Brazil, 8.Department Speech Therapy, Hospital for Rehabilitation of Craniofacial Anomalies, University of São Paulo, Bauru, São Paulo, Brazil, 9.Department of Cell Signaling, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, Japan)

[P2-04-15]A case of deliveries from two sisters with Hereditary sensory and autonomic neuropathy type V

Daisuke Higeta, Akihito Morita, Kanako Toyoda, Risa Uehara, Ayuko Tanaka, Yosuke Uchiyama, Tatsuya Sato, Akira Iwase (Department of obstetrics and Gynecology, Gunma University Hospital, Gunma, Japan)

[P2-04-16]A case of GRIN1 gene-related disorder

Yumiko Nishimura1, Keiko Matsuda1, Yuiko Hasegawa1, Eriko Nishi1, Kazumi Kawato1, Kayo Inoue1, Kumiko Yanagi2, Tadashi Kaname2, Nobuhiko Okamoto1 (1.Department of Medical Genetics, Osaka Women's and Children's Hospital, Izumi, Osaka, Japan, 2.Department of Genome Medicine, National Center for Child Health and Development, Tokyo, Japan)

[P2-04-17]A case of familial hypocalciuric hypercalcemia discovered with a sciatic artery aneurysmal bone cyst

Kazuyuki Oishi1, Takahiro Yoshioka2 (1.Department of Breast and Thyroid Surgery, Kochi Health Science Center, 2.Department of Gastroenterological Surgery, Kochi Health Science Center)

[P2-04-18]ATP1A3 potentially causes hereditary spastic paraplegia: a rare case of pediatric patient

Satomi Okano1, Yoshio Makita2, Yuki Ueda3, Akie Miyamoto4, Hajime Tanaka4, Kumiko Yanagi5, Tadashi Kaname5 (1.Department of Pediatrics, Sapporo Tokushukai Hospital, 2.Department of Genetic Counseling, Asahikawa Medical University Hospital, 3.Department of Pediatrics, Hokkaido University Graduate School of Medicine, 4.Department of Pediatrics, Asahikawa Habilitation Center for Children, 5.Department of Genome Medicine, National Institute for Child Health and Development)

[P2-04-19]Establishment of iPSC-derived neurons from a patient with the p.R756C variant in ATP1A3

Fumihiko Fujii, Hikaru Kanemasa, Yasunari Sakai, Shouichi Ohga (Departments of Pediatrics, Kyushu University, Fukuoka, Japan)

[P2-04-20]Clinical features of patients with COL11A1 variants and genetic counseling

Satomi Inoue1, Haruka Murakami1, Kiyomitsu Nara2, Hideki Mutai2,3, Shujiro Minami4, Kaoru Fujinami1, Kazuki Yamazawa1, Tatsuo Matsunaga1,2,4 (1.Department of Medical Genetics, NHO Tokyo Medical Center, Tokyo, Japan, 2.Division of Hearing and Balance Research, NHO Tokyo Medical Center, Tokyo, Japan, 3.Molecular Genetics, Kitasato University School of Medicine, Kanagawa, Japan, 4.Department of Otorhinolaryngology, NHO Tokyo Medical Center, Tokyo, Japan)

[P2-04-21]Genetic Testing Using NGS for Rare Disease Diagnosis in Cardiovascular Diseases

Kaori Kugo, Youhei Miyashita, Yoshihiro Asano (National Cerebral and Cardiovascular Center)

[P2-04-22]Eight-year study of Initiative on Rare and Undiagnosed Diseases in Sapporo Medical University Hospital

Aki Ishikawa1,2,3, Ayana Miura2, Kayano Komatsu2, Sachiko Miyazaki1, Kentaro Suda2, Hiroko Shigetomi3, Tasuku Mariya1,4, Tetsuya Niihori5, Yoko Aoki5, Yosuke Nishio6, Tomoo Ogi6, Akihiro Sakurai1,2 (1.Department of Medical Genetics and Genomics, 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, Sapporo Medical University, Sapporo, Japan, 4.Department of Obstetrics and Gynecology, School of Medicine, Sapporo Medical University, Sapporo, Japan, 5.Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan, 6.Department of Genetics, Research Institute of Environmental Medicine (RIeM), Nagoya University, Nagoya, Japan)

[P2-04-23]Novel causative gene for ciliopathy; biallelic loss-of-function of CCP110 causes growth failure and skeletal defects

Hisato Suzuki1,2, Yukako Muramatsu3, Fuyuki Miya1, Hideyuki Asada4, Mamiko Yamada1, Gen Nishimura5, Kenjiro Kosaki1, Toshiki Takenouchi6 (1.Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan, 2.Department of Medical Genetics, Institute of Medicine, University of Tsukuba, Ibaraki, Japan, 3.Department of Pediatrics, Nagoya University Graduate School of Medicine, Aichi, Japan, 4.Department of Pediatrics, Japanese Red Cross Aichi Medical Center Nagoya Daiichi Hospital, Aichi, Japan, 5.Department of Radiology, Musashino-Yowakai Hospital, Tokyo, Japan, 6.Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan)

[P2-04-24]An effective framework predicting splicing single nucleotide variants in exome sequencing

Yasuhiro Utsuno1, Kohei Hamanaka1,2, Masamune Sakamoto1,3, Naomi Tsuchida1,3, Yuri Uchiyama1,3, Eriko Koshimizu1, Atsushi Fujita1, Kazuharu Misawa1,5, Satoko Miyatake1,4, Takeshi Mizuguchi1, Naomichi Matsumoto1 (1.Department of Human Genetics, Yokohama City University, Yokohama, Japan, 2.The Institute for the Advanced Study of Human Biology (ASHBi), Kyoto University, Kyoto, Japan, 3.Department Rare Disease Genomics, Yokohama City University Hospital, Yokohama, Japan, 4.Department of Clinical Genetics, Yokohama City University Hospital, Yokohama, Japan, 5.RIKEN Center for Advanced Intelligence Project, Tokyo, Japan)

[P2-04-25]Pathogenic mechanism of megalencephalic leukoencephalopathy with subcortical cysts by use of genome editing

Naoko Sangu1, Keiko Yamamoto-Shimojima2,3, Toshiyuki Yamamoto3,4 (1.Department of Oral and Maxillofacial surgery, Tokyo Women's Medical University,Tokyo, 2.Transfusion Medicine and Cell Processing, Tokyo Women's Medical University, 3.Institute of Medical Genetics, Tokyo Women's Medical University, 4.Division of Gene Medicine, Graduate School of Medicine, Tokyo Women's Medical University)