The relationship between paternal uniparental disomy and renal-urological features in patients with Beckwith-Wiedemann syndrome

2012 Fiscal Year Final Research Report

• Project/Area Number: 23791186
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Multi-year Fund
• Research Field: Pediatrics
• Research Institution: Saga University
• Principal Investigator: OHTSUKA Yasufumi 佐賀大学, 医学部, 助教 (50448479)
• Project Period (FY): 2011 – 2012
• Keywords: ベックウィズ・ビーデマン症候群 / 父性ダイソミー / SNPアレイ

Research Abstract

We investigated the relationship between paternal uniparental disomy and characteristic features in patients with Beckwith-Wiedemann syndrome. It was suggested the sever genetic variability of mosaic ratio and the extent of UPD might shorten gestational period.Four cases (13%) of genome-wide UPD might alter the phenotypes. We extracted 6 motifs which might be associated with somatic recombination by investigating the breakpoint of the paternal disomy.

Research Products

• [Journal Article] Homozygous deletion of DIS3L2 exon 9 due to non-allelic homologous recombination between LINE-1s in a Japanese patient with Perlman syndrome (2013)
  • Author(s): Ken Higashimoto, Toshiyuki Maeda, Junichiro Okada, Yasufumi Ohtsuka, Kensaku Sasaki,Akiko Hirose, Makoto Nomiyama, Toshimitsu Takayanagi, Ryuji Fukuzawa, Hitomi Yatsuki,Kayoko Koide, Kenichi Nishioka, Keiichiro Joh, Yoriko Watanabe, Koh-ichiro Yoshiura andHidenobu Soejima
  • Journal Title: Eur J Hum Genet Pages: 1-4
  • Peer Reviewed
• [Journal Article] A notable case report of May-Hegglin anomaly with immune-complex-related nephropathy: a genetic and histological analysis. (2011)
  • Author(s): Ohtsuka Y, Kanaji T, Nishi M, Sakai N, Sato T, Aoki S, Wakayama K, Nakazato S, Hisano S, Sado Y, Kawachi H, Izuhara K, Hamasaki Y
  • Journal Title: Clin Nephrol Volume: 75(3) Pages: 255-62
  • Peer Reviewed
• [Journal Article] 小児腎移植におけるミコフェノール酸モフェチルの多施設共同オープンラベル臨床試験 有効性・安全性、薬物動態の評価. (2011)
  • Author(s): 飯島一誠, 佐古まゆみ, 木村利美, 服部元史, 亀井宏一, 野津寛大, 宍戸清一郎, 相川厚, 森田研, 後藤芳充, 和田尚弘, 大塚泰史, 長田道夫, 斉藤真梨, 本田雅敬, 土田尚, 中村秀文
  • Journal Title: 日本小児腎臓病学会雑誌 Volume: 24巻1号 Pages: 36-46
  • Peer Reviewed
• [Journal Article] MALL-NPHP1 遺伝子欠失を認めたSenior-Loken 症候群の一例 (2011)
  • Author(s): 石松菜那, 大塚泰史, 岡政史, 佐藤忠司, 濱崎雄平, 青木茂久, 杉本圭相, 竹村司.
  • Journal Title: 日本小児腎臓病学会雑誌 Volume: 24巻2号 Pages: 62-66
  • Peer Reviewed
• [Presentation] The relationship between paternal uniparental disomy and clinical features in patients with Beckwith-Wiedemann syndrome (2012)
  • Author(s): Yasufumi Ohtsuka, Kosuke Jozaki, Toshiyuki Maeda, Hitomi Yatsuki, Ken Higashimoto, Hidenobu Soejima
  • Organizer: American Society of Human Genetics Annual Meeting
  • Place of Presentation: San Francisco
  • Year and Date: 20121106-10
• [Presentation] Beckwith-Wiedemann症候群における片親性父性ダイソミーの多様性と臨床症状との関連 (2012)
  • Author(s): 大塚泰史、前田寿幸、城崎幸介、八木ひとみ、東元健、副島英伸
  • Organizer: 第57回日本人類遺伝学会
  • Place of Presentation: 東京
  • Year and Date: 20121024-27
• [Presentation] 抗Factor H抗体にて発症したatypical HUS (aHUS)の 一 例 (2012)
  • Author(s): 大塚泰史、岡政史、稲田由紀子、石松菜那、佐藤忠司、濱崎雄平
  • Organizer: 長崎佐賀合同地方会
  • Place of Presentation: 長崎
  • Year and Date: 2012-08-12
• [Presentation] Beckwith-Wiedemann症候群における片親性父性ダイソミーの多様性と臨床症状との関連 (2012)
  • Author(s): 大塚泰史、前田寿幸、城崎幸介、八木ひとみ、東元健、副島英伸
  • Organizer: 第6回日本エピジェネティック研究会
  • Place of Presentation: 東京
  • Year and Date: 2012-05-14
• [Presentation] A case of Pseudo-Bartter syndrome in a low birth weight infant caused by the mother's eating disorder (2011)
  • Author(s): Ohtsuka Yasufumi, Oka Masafumi, Sakai Nana, Egashira Masakazu, Yamaguchi Tomona, Hamasaki Yuhei
  • Organizer: 日本小児腎臓病学会雑誌
  • Place of Presentation: 福岡
  • Year and Date: 2011-06-02
• [Presentation] An Asian case of Schinzel-Giedion Syndrome with an SETBP1 mutation (2011)
  • Author(s): Ohtsuka Yasufumi, Oka Masafumi, Sakai Nana, Aoki Shigehisa, Hamasaki Yuhei
  • Organizer: 日本小児腎臓病学会雑誌
  • Place of Presentation: 福岡
  • Year and Date: 2011-06-02
• [Presentation] A case of Senior Loken syndrome with a mutation of NPHP1 (2011)
  • Author(s): Sakai Nana, Ohtsuka Yasufumi, Oka Masafumi, Hamasaki Yuhei, Aoki Shigehisa, Sugimoto Keisuke, Takemura Tsukasa
  • Organizer: 日本小児腎臓病学会雑誌
  • Place of Presentation: 福岡
  • Year and Date: 2011-06-02