Beckwith-Wiedemann症候群の臨床的研究 ―インプリント遺伝子解析と臨床経過を中心として―

加藤 大貴; 井村 英人; 東元 健; 八木 ひとみ; 芝崎 龍典; 古川 博雄; 新美 照幸; 藤原 久美子; 鈴木 聡; 外山 佳孝; 南 克浩; 井上 知佐子; 早川 統子; 副島 英伸; 夏目 長門

doi:10.11224/cleftpalate.39.21

A Clinical Study of Beckwith-Wiedemann Syndrome

—Analysis of Imprinting Gene and Follow Up—

Tomoki KATO, Hideto IMURA, Ken HIGASHIMOTO, Hitomi YAGI, Tatsunori SHIBASAKI, Hiroo FURUKAWA, Teruyuki NIIMI, Kumiko FUJIWARA, Satoshi SUZUKI, Yoshitaka TOYAMA, Katsuhiro MINAMI, Chisako INOUE, Toko HAYAKAWA, Hidenobu SOEJIMA, Nagato NATSUME

Author information

Tomoki KATO
Division of Research and Treatment for Oral and Maxillofacial Congenital Anomalies, School of Dentistry, Aichi Gakuin University
Division of Molecular Genetics & Epigenetics, Department of Biomolecular Sciences, Faculty of Medicine, Saga University
Hideto IMURA
Division of Research and Treatment for Oral and Maxillofacial Congenital Anomalies, School of Dentistry, Aichi Gakuin University
Division of Molecular Genetics & Epigenetics, Department of Biomolecular Sciences, Faculty of Medicine, Saga University
Ken HIGASHIMOTO
Cleft Lip and Palate Center, Aichi Gakuin University Hospital
Hitomi YAGI
Cleft Lip and Palate Center, Aichi Gakuin University Hospital
Tatsunori SHIBASAKI
Division of Research and Treatment for Oral and Maxillofacial Congenital Anomalies, School of Dentistry, Aichi Gakuin University
Division of Molecular Genetics & Epigenetics, Department of Biomolecular Sciences, Faculty of Medicine, Saga University
Hiroo FURUKAWA
Division of Research and Treatment for Oral and Maxillofacial Congenital Anomalies, School of Dentistry, Aichi Gakuin University
Division of Molecular Genetics & Epigenetics, Department of Biomolecular Sciences, Faculty of Medicine, Saga University
Teruyuki NIIMI
Division of Research and Treatment for Oral and Maxillofacial Congenital Anomalies, School of Dentistry, Aichi Gakuin University
Division of Molecular Genetics & Epigenetics, Department of Biomolecular Sciences, Faculty of Medicine, Saga University
Kumiko FUJIWARA
Division of Research and Treatment for Oral and Maxillofacial Congenital Anomalies, School of Dentistry, Aichi Gakuin University
Division of Molecular Genetics & Epigenetics, Department of Biomolecular Sciences, Faculty of Medicine, Saga University
Satoshi SUZUKI
Division of Research and Treatment for Oral and Maxillofacial Congenital Anomalies, School of Dentistry, Aichi Gakuin University
Division of Molecular Genetics & Epigenetics, Department of Biomolecular Sciences, Faculty of Medicine, Saga University
Yoshitaka TOYAMA
Division of Research and Treatment for Oral and Maxillofacial Congenital Anomalies, School of Dentistry, Aichi Gakuin University
Division of Molecular Genetics & Epigenetics, Department of Biomolecular Sciences, Faculty of Medicine, Saga University
Katsuhiro MINAMI
Division of Research and Treatment for Oral and Maxillofacial Congenital Anomalies, School of Dentistry, Aichi Gakuin University
Division of Molecular Genetics & Epigenetics, Department of Biomolecular Sciences, Faculty of Medicine, Saga University
Chisako INOUE
Division of Molecular Genetics & Epigenetics, Department of Biomolecular Sciences, Faculty of Medicine, Saga University
Toko HAYAKAWA
Division of Molecular Genetics & Epigenetics, Department of Biomolecular Sciences, Faculty of Medicine, Saga University
Hidenobu SOEJIMA
Cleft Lip and Palate Center, Aichi Gakuin University Hospital
Nagato NATSUME
Division of Research and Treatment for Oral and Maxillofacial Congenital Anomalies, School of Dentistry, Aichi Gakuin University
Division of Molecular Genetics & Epigenetics, Department of Biomolecular Sciences, Faculty of Medicine, Saga University

Keywords: Beckwith-Wiedemann syndrome, macroglossia, imprinted gene, genetic analysis

JOURNAL RESTRICTED ACCESS

2014 Volume 39 Issue 1 Pages 21-27

DOI https://doi.org/10.11224/cleftpalate.39.21

Details

Abstract

Beckwith-Wiedemann Syndrome (BWS) is a common overgrowth syndrome that involves abdominal wall defects, macroglossia, and gigantism. BWS is caused by an imprinted gene within the chromosome 11p15.5 region. A patient was referred to our center for speech disorder and macroglossia. Speech training and conservative treatment were performed. An imprinted gene was analyzed in the BWS patient. We detected hypomethylation of KvDMR1 in this patient. We report on the imprinted gene and mechanism of BWS development.

Corresponding author

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