Human Genetics

, Volume 104, Issue 4, pp 341–344

A novel mutation of the doublecortin gene in Japanese patients with X-linked lissencephaly and subcortical band heterotopia

Authors

  • M. Kato
    • Department of Pediatrics, Yamagata University School of Medicine, 2-2-2 Iida-nishi, Yamagata 990-9585, Japan e-mail: mkato@med.id.yamagata-u.ac.jp, Fax: +81-23-628-5332
  • Toshiyuki Kimura
    • Department of Pediatrics, Yamagata University School of Medicine, 2-2-2 Iida-nishi, Yamagata 990-9585, Japan e-mail: mkato@med.id.yamagata-u.ac.jp, Fax: +81-23-628-5332
  • Changqing Lin
    • Department of Pediatrics, Yamagata University School of Medicine, 2-2-2 Iida-nishi, Yamagata 990-9585, Japan e-mail: mkato@med.id.yamagata-u.ac.jp, Fax: +81-23-628-5332
  • Aiko Ito
    • Department of Pediatrics, Yamagata University School of Medicine, 2-2-2 Iida-nishi, Yamagata 990-9585, Japan e-mail: mkato@med.id.yamagata-u.ac.jp, Fax: +81-23-628-5332
  • Soichi Kodama
    • Himeji Red Cross Hospital, Hyogo, Japan
  • Tateki Morikawa
    • National Epilepsy Center, Shizuoka Higashi Hospital, Shizuoka, Japan
  • Takashi Soga
    • Epilepsy Hospital Bethel, Miyagi, Japan
  • Kiyoshi Hayasaka
    • Department of Pediatrics, Yamagata University School of Medicine, 2-2-2 Iida-nishi, Yamagata 990-9585, Japan e-mail: mkato@med.id.yamagata-u.ac.jp, Fax: +81-23-628-5332
Original investigation

DOI: 10.1007/s004390050963

Cite this article as:
Kato, M., Kimura, T., Lin, C. et al. Hum Genet (1999) 104: 341. doi:10.1007/s004390050963

Abstract

The doublecortin (DCX) gene was recently found to be involved in patients with X-linked lissencephaly and subcortical band heterotopia or double cortex syndrome. We have studied the coding regions of the DCX gene in 11 Japanese patients with cortical dysplasia and have identified three different mutations (R186C in exon 3, R272X and R303X in exon 5) in four sporadic female cases. R272X, which has been detected in two unrelated cases, is a novel mutation. Although the number of cases studied remains limited, exon 5 may be a common mutational site in Japanese patients in contrast to many previus reports concerning exons 2 and 3.

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Copyright information

© Springer-Verlag Berlin Heidelberg 1999