Session Details

[P1-12]Poster Session 1-12 Pediatric Genetics 1

Thu. Oct 10, 2024 4:50 PM - 5:50 PM JST
Thu. Oct 10, 2024 7:50 AM - 8:50 AM UTC
Poster Room

[P1-12-1]A novel homozygous CHMP1A variant arising from segmental uniparental disomy causes pontocerebellar hypoplasia type 8

Masamune Sakamoto1,2,5, Toshihide Shiiki3, Shuji Matsui3, Nobuhiko Okamoto4, Eriko Koshimizu1, Naomi Tsuchida1,5, Yuri Uchiyama1,5, Kohei Hamanaka1, Atsushi Fujita1, Satoko Miyatake1,6, Kazuharu Misawa1,7, Takeshi Mizuguchi1, Matsumoto Naomichi1 (1.Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan, 2.Department of Pediatrics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan, 3.Department of Pediatrics, Tokyo Children Rehabilitation Hospital, Tokyo, Japan, 4.Department of Medical Genetics, Osaka Women's and Children's Hospital, Izumi, Japan, 5.Department of Rare Disease Genomics, Yokohama City University Hospital, Yokohama, Japan, 6.Department of Clinical Genetics, Yokohama City University Hospital, Yokohama, Japan, 7.Riken Center for Advanced Intelligence Project, Tokyo, Japan)

[P1-12-2]A case of Crouzon syndrome with acanthosis nigricans complicated by facial fibrous dysplasia

Yu Yamaguchi, Ai Fijimoto (Department of Genetics, Gunma Children's Medical Center, Gunma, Japan)

[P1-12-3]A case of complex hereditary spastic paraplegia with pathogenic variants in SLC2A1

Kohei Matsubara1, Kohei Yamakawa1, Risako Ishioka1, Masataka Fukuoka1, Megumi Nukui1, Takeshi Inoue1, Ichiro Kuki1, Yukina Hayashi2, Atsushi Fujita2, Naomichi Matsumoto2, Shin Okazaki1 (1.Division of Pediatric Neurology and logopedics, Osaka City General Hospital, 2.Division of Human Genetics, Yokohama City University Graduate School of Medicine)

[P1-12-4]A rare novel pathogenic deletion variant of the AXSL1 gene causing Bohring-Opitz syndrome

Takaya Iida1, Arisa Igarashi1, Taiga Aoki1, Kumiko Yanagi1, Masahiko Yamamori1, Nana Kobayashi1, Yukimi Abe1, Tadashi Kaname1, Nobuhiko Okamoto2 (1.Department of Genome Medicine, National Center for Child Health and Development, 2.Department of Medical Genetics, Osaka Women's and Children's Hospital)

[P1-12-5]A heterozygous MMP13 pathogenic variant (p.Met91Thr) in two Japanese infants with metaphyseal anadysplasia type 1

Midori Motokawa1, Haruka Kawamura1, Tatsuki Urakawa1,2, Masayo Kagami2, Maki Hukami2, Noriyuki Namba3, Sumito Dateki1 (1.Department of Pediatrics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan, 2.Department of Molecular Endocrinology, National Center for Child Health and Development, Tokyo, Japan, 3.Department of Pediatrics and Perinatology, Tottori University Faculty of Medicine)

[P1-12-6]A female case of Xq27.3-q28 deletion syndrome with Turner syndrome-like features

Yu Aihara1, Shimpei Baba1, Eri Takeshita1, Chihiro Nakata2, Chihiro Abe-Hatano3, Ken Inoue3, Kento Ikegawa4, Yu-ichi Goto3, Hirofumi Komaki1 (1.Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan, 2.Departments of Epileptology, National Center Hospital, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan, 3.Medical Genome Center, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan, 4.Division of Endocrinology and Metabolism, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan)

[P1-12-7]A Case of NSD2 Deletion Requiring Differential Diagnosis from Silver-Russell Syndrome

Natsuki Nakamura1, Seiji Mizuno1, Yuki Hashimoto2, Shiomi Otsuji1, Tomoko Uehara1, Shin Hayashi1, Mie Inaba1 (1.Department of Pediatrics and Clinical Genetics, Aichi Developmental Disability Center Central Hospital, Aichi, Japan, 2.Department of Pediatrics, Ogaki Municipal Hospital, Gifu, Japan)

[P1-12-8]A Clinical guideline of Early-Onset Thrombophilia for Effective Genetic Counseling

Masayuki Ochiai (Research Center for Environmental and Developmental Medical Sciences, Kyushu University)

[P1-12-9]A case of inherited epidermolysis bullosa simplex with KLHL24 gene mutation in Japan

Tomoko Miyake1, Ken Natsuga2, Takatsune Umayahara3, Seiko Naito3, Junko Yoshimoto4, Akemi Seno3, Wang Han-Tang5,6, Hsu Chao-Kai5,6 (1.Department of Dermatology, Okayama University Hospital, Okayama, Japan, 2.Department of Dermatology, Hokkaido University, Hokkaido, Japan, 3.Division of Dermatology, Okayama Red cross Hospital, Okayama, Japan, 4.Department of Pediatrics, Okayama University Hospital, Okayama, Japan, 5.Department of Dermatology, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan, 6.International Center for Wound Repair and Regeneration (iWRR), National Cheng Kung University, Tainan, Taiwan)

[P1-12-10]A case of Pseudoxanthoma elasticum presenting the cardiovascular symptoms preceding the dermatological symptoms

Ryuta Takase1, Kaori Fukui1, Akira Iwanaga3, Keiko Hashikawa2, Hiroyuki Murota3, Takekuni Nakama2, Yoriko Watanabe1 (1.The Department of Pediatrics and Child Health Kurume University School of Medicine, 2.Department of Dermatology, Nagasaki University Graduate School of Biomedical Sciences, 3.Department of Dermatology, Nagasaki University Graduate School of Biomedical Sciences)

[P1-12-11]A case of Baraitser Winter syndrome diagnosed by whole exome sequencing

Kenichi Suga1, Masashi Suzue2, Ryuji Nakagawa2, Aya Goji3, Tatsuo Mori2, Yoshimi Mihara4, Yoko Miyamoto5, Yukiko Yoshida5, Yuta Inoue6, Naomi Tsuchida6, Naomichi Matsumoto6, Hiroyuki Morino7, Urushihara Maki2 (1.Department of Communiity Pediatric Medicine, Tokushima University Hospital, 2.Department of Pedaitrics, Tokushima University Hospital,, 3.Department of Pediatrics, Tokushima Municipal Hospital, 4.Department of Advanced Brain Research, Institute of Biomedical Sciences, Graduate School of Medicine, Tokushima University, 5.Department of Genetic Counseling, Genome Medical Center, Tokushima Universiy Hospital, 6.Department of Human Genetics, Yokohama City University Graduate School of Medicine, 7.Department of Medical Genetics, Tokushima University Hospital)

[P1-12-12]A girl with congenital stenosis of left femoral artery

Hidefumi Tonoki1,2, Osamu Sasaki2, Nobuhiro Takahashi2, Yasuhiro Utsuno3, Naomichi Matsumoto3 (1.Medical Genetics Center, Tenshi Hospital, Sapporo, Japan, 2.Tenshi Chirdrens Medical Center, Tenshi Hospital, Sapporo, Japan, 3.Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan)

[P1-12-13]A Case of Childhood Onset Moyamoya Disease and Diffuse Vasculopathy in a Patient with a Novel RNF213 Missense Variant

Kentaro Fukuda1, Shiho Ito2, Maho Kuroda1, Chiharu Suda1, Haruka Yamanaka1, Hiroshi Futagawa1, Riku Hamada3, Mamiko Yamada4, Hisato Suzuki4, Toshiki Takenouchi5, Kenjiro Kosaki4, Hiroshi Yoshihashi1 (1.Department of Clinical Genetics, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan, 2.Department of Nursing, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan, 3.Department of Nephrology, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan, 4.Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan, 5.Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan)

[P1-12-14]A FLNA p.G1554R variant with familial polyvalvular disease

Koki Nagai1, Yasuhiro Kawai1, Ruriko Tachioka1, Tomoko Nishikawa1, Yumi Enomoto2, Takuya Naruto2, Yukiko Kuroda1,2, Kenji Kurosawa1,2 (1.Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan, 2.Clinical Research Institute, Kanagawa Children's Medical Center, Yokohama, Japan)

[P1-12-15]A diagnostic Process for a 4-Year-Old Boy with Hypotonia, Ataxia, Developmental Delay, and Tooth Enamel Defect Syndrome

Makiko Fuyuki1, Eri Sakai2, Junko Hotta1,2, Tomoyo Yamashita1,2, Kosuke Ito1,2, Chie Ono2, Yukiko Jogu2, Haruka Bamba2, Toshiyuki Yamamoto3, Takashi Hamazaki1, Toshiyuki Seto1,2 (1.Department of Pediatrics, Osaka Metropolitan University Graduate School of Medicine, Osaka, Japan, 2.Department of Medical Genetics, Osaka Metropolitan University Graduate School of Medicine, Osaka, Japan, 3.Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan)

[P1-12-16]A case of ACTA2 mutation with various symptoms from the fetal period

Ayana Tsuboi1,2, Hisako Saiki3, Satoshi Hirahara4, Naomi Kamei4, Kazuhiro Ohtsu4, Hanae Satano1, Rie Fukuhara3, Mihoko Doi1, Toshiki Takenouchi5, Kenjiro Kosaki6 (1.Department of Genomic Medicine, Hiroshima Prefectural Hospital, Hiroshima, Japan, 2.Department of Pediatrics, Hiroshima Prefectural Hospital, Hiroshima, Japan, 3.Department of Neonatology, Hiroshima Prefectural Hospital, Hiroshima, Japan, 4.Department of Pediatrics Surgery, Hiroshima Prefectural Hospital, Hiroshima, Japan, 5.Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan, 6.Center of MedicalGenetics, Keio University School of medicine, Tokyo, Japan)

[P1-12-17]A recurrent splice site DNM1 variant in a patient with severe developmental and epileptic encephalopathy

Yasuhiro Kawai1, Koki Nagai1, Yu Tsuyusaki2, Ruriko Tachioka1, Tomoko Nishikawa1, Yumi Enomoto3, Takuya Naruto3, Yukiko Kuroda1, Kenji Kurosawa1 (1.Department of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan,2.Department of Neurology, Kanagawa Children's Medical Center, Yokohama, Japan, 3.Clinical Research Institute, Kanagawa Children's Medical Center, Yokohama, Japan)

[P1-12-18]A Case of Houge-Janssens Syndrome Type 2 with Severe Intellectual Disability

Yoko Hoshino1,2, Sayaka Katori1, Aki Ishikawa2,3, Kentaro Suda3, Tasuku Mariya2, Yosuke Nishio4, Tomoo Ogi4, Akihiro Sakurai2,3 (1.Department of Pediatric Rehabilitation, Hokkaido Medical Center for Child Health and Rehabilitation, Sapporo, Japan, 2.Department of Medical Genetics and Genomics, School of Medicine, Sapporo Medical University, Sapporo, Japan, 3.Department of Clinical Genetics, Sapporo Medical University Hospital, Sapporo, Japan, 4.Department of Genetics, Research Institute of Environmental Medicine (RIeM), Nagoya University, Nagoya, Japan)

[P1-12-19]A rare de novo CHD1 variant in a patient with Rett-like neurodevelopmental disorder

Tomoe Yanagishita1, Yuriko Ogawa1, Rina Shimomura1,2, Keiko Shimojima Yamamoto3, Miho Nagata4, Yasuki Ishihara4, Kyoko Hirasawa1, Satoru Nagata1, Yoshihiro Asano4, Toshiyuki Yamamoto2,5 (1.Department of Pediatrics, Tokyo Womens Medical University, Tokyo, Japan, 2.Division of Gene Medicine, Graduate School of Medical Science, Tokyo Womens Medical University, Tokyo, Japan, 3.Transfusion Medicine and Cell Processing, Tokyo Womens Medical University, Tokyo, Japan, 4.Department of Cardiovascular Medicine (IRUD Analysis Center), Osaka University Graduate School of Medicine, 5.Institute of Medical Genetics, Tokyo Womens Medical University, Tokyo, Japan)

[P1-12-20]A case report: Comprehensive genetic analysis in a boy initially suspected of SMA revealed a pathogenic variant in GNB2

Yoshitaka Asagai1,2, Hiroaki Hanafusa1,2, Shoko Sonehara2, Yoshinori Nambu2, Hiroyuki Awano1,2,3, Kandai Nozu1,2, Ryousuke Bo1,2 (1.Department of Medical Genetics, Kobe University Hospital, 2.Department of Pediatrics, Kobe University Graduate School of Medicine, 3.Organization for Research Initiative and Promotion, Tottori University)

[P1-12-21]Biological patterns of mouse embryonic palatal mesenchymal cells at different developmental stages

Juan Du, Zhiwei Wang, Xia Peng, Xiaoyu Zheng (Laboratory of Orofacial Development, Laboratory of Molecular Signaling and Stem Cells Therapy Molecular Laboratory for Gene Therapy and Tooth Regeneration Beijing Key Laboratory of Tooth Regeneration and Function Reconstruction Capital Medical University School of Stomatology)