Human Genetics

, Volume 100, Issue 5–6, pp 681–683

New p57KIP2 mutations in Beckwith-Wiedemann syndrome

  • I. Hatada
  • Akira Nabetani
  • Hiroko Morisaki
  • Zhenghan Xin
  • Sachiko Ohishi
  • Hidefumi Tonoki
  • Norio Niikawa
  • Masahiro Inoue
  • Yosuke Komoto
  • Akira Okada
  • Elisabeth Steichen
  • Hirofumi Ohashi
  • Yoshimitsu Fukushima
  • Masahiro Nakayama
  • Tsunehiro Mukai
Rapid communication

DOI: 10.1007/s004390050573

Cite this article as:
Hatada, I., Nabetani, A., Morisaki, H. et al. Hum Genet (1997) 100: 681. doi:10.1007/s004390050573

Abstract

Beckwith-Wiedemann syndrome (BWS) is characterized by numerous growth abnormalities and an increased risk of childhood tumors. The gene for BWS is localized in the 11p15.5 region, as determined by linkage analysis of autosomal dominant pedigrees. The increased maternal transmission pattern seen in the autosomal dominant-type pedigrees and the findings of paternal uniparental disomy reported for a subgroup of patients indicate that the gene for BWS is imprinted. Previously, we found p57KIP2, which is a Cdk-kinase inhibitor located at 11p15, is mutated in two BWS patients. Here, we screened for the mutation of the gene in 15 BWS patients.

Copyright information

© Springer-Verlag Berlin Heidelberg 1997

Authors and Affiliations

  • I. Hatada
    • 1
  • Akira Nabetani
    • 1
  • Hiroko Morisaki
    • 1
  • Zhenghan Xin
    • 1
  • Sachiko Ohishi
    • 1
  • Hidefumi Tonoki
    • 2
  • Norio Niikawa
    • 3
  • Masahiro Inoue
    • 4
  • Yosuke Komoto
    • 4
  • Akira Okada
    • 4
  • Elisabeth Steichen
    • 5
  • Hirofumi Ohashi
    • 6
  • Yoshimitsu Fukushima
    • 7
  • Masahiro Nakayama
    • 8
  • Tsunehiro Mukai
    • 1
  1. 1.National Cardiovascular Center Research Institute, 5-7-1, Fujishiro-dai, Suita, Osaka 565, Japan e-mail: hatada@ri.ncvc.go.jpJP
  2. 2.Hokkaido University School of Medicine, N-15, W-7, Sapporo 060, JapanJP
  3. 3.Nagasaki University School of Medicine, 1-12-4 Sakamoto, Nagasaki 852, JapanJP
  4. 4.Osaka University Medical School, 2-2 Yamadaoka, Suita, Osaka 565, JapanJP
  5. 5.University of Innsbruck, Anichstrasse 35, A-6020 Innsbruck, AustriaAT
  6. 6.Saitama Children’s Medical Center, 2100 Magome, Iwatsuki, Saitama 339, JapanJP
  7. 7.Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto, Nagano 390, JapanJP
  8. 8.Osaka Medical Center and Research Institute for Maternal and Child Health, 840 Murodou-cyo, Izumi, Osaka 565, JapanJP

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