Genetic analysis of hypohidrotic ectodermal dysplasia

2001 Fiscal Year Final Research Report Summary

• Project/Area Number: 12670829
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Single-year Grants
• Section: 一般
• Research Field: Dermatology
• Research Institution: Kagoshima University
• Principal Investigator: YOTSUMOTO Shinichi Kagoshima University, Faculty of Medicine, Assistant Professor, 医学部・附属病院, 講師 (70244241)
• Project Period (FY): 2000 – 2001
• Keywords: ectodermal dysplasia / DNA / ED1 / skin / ectodysplasin / tumor necrosis factor / furin / hair

Research Abstract

X-linked hypohidrotic ectodermal dysplasia (XLHED; OMIM 305100) is characterized by sparse hair, abnormal teeth and decreased sweating due to abnormal development of the sweat glands. Mutations in the ED1 gene, which encodes ectodysplasin-A (EDA), are responsible for XLHED. EDA, a ligand for the EDA receptor, plays an important role in epidermal morphogenesis. We identified ED1 mutations including three novel mutations by sequencing genomic DNAs from eight unrelated Japanese XLHED families. Data from all reported mutations reveal that codon 156 in the furin subdomain is the most frequent site of change in EDA.

Research Products

• [Publications] Yotsumoto, S., Shimada, S., Terasaki, K., Taketani, S., et al.: "A novel a(-4)-to-g acceptor splice site mutation leads to three bases insertion in ferrochelatase mRNA in a patient with erythropoietic"J. Invest. Dermatol.. 117. 159-161 (2001)
  • Description: 「研究成果報告書概要(和文)」より
• [Publications] Hashiguchi, T., Yotsumoto, S., Shimada, H., Terasaki, K., et al.: "A novel point mutation in the keratin 17 gene in a Japanese case of pachyonychia congenita type 2"J. Invest. Dermatol.. 118. 545-547 (2002)
  • Description: 「研究成果報告書概要(和文)」より
• [Publications] Hashiguchi, T., Yotsumoto, S., Kanzaki, T.: "Mutations in the ED1 gene in Japanese families with X-linked hypohidrotic ectodermal dysplasia"Exp. Dermatol.. (in press).
  • Description: 「研究成果報告書概要(和文)」より
• [Publications] Yotsumoto,S., Akiyama,M., Yoneda,K., Fukushige,T., Kobayashi,K., Saheki,T., and Kanzaki,T.: "Analyses of the transglutaminase 1 gene mutation and ultrastructural characteristics in a Japanese patient with lamellar ichthyosis"J. Invest. Dermatol.. 117. 159-161 (2001)
  • Description: 「研究成果報告書概要(欧文)」より
• [Publications] Yotsumoto,S., Shimada,S., Terasaki,K., Taketani,S., Kobayashi,K., Saheki,T., and Kanzaki,T.: "A novel a)-4)-to-g acceptor splice site mutation leads to three bases insertion in ferrochelatase mRNA in a patient with erythropoietic protoporphyria"J. Invest. Dermatol. 117. 159-161 (2001)
  • Description: 「研究成果報告書概要(欧文)」より
• [Publications] Hashiguchi,T., Yotsumoto,S., Shimada,H., Terasaki,K., Setoyama,M., Kobayashi,K., Saheki,T. and Kanzaki,T.: "A novel point mutation in the keratin 17 gene in a Japanese case of pachyonychia congenita type 2"J. Invest. Dermatol.. 118. 545-547 (2002)
  • Description: 「研究成果報告書概要(欧文)」より
• [Publications] Hashiguchi,T., Yotsumoto,S. and Kanzaki,T.: "Mutations in the ED1 gene in Japanese families with X-linked hypohidrotic ectodermal dysplasia"Exp. Dermatol.. in revision. (2002)
  • Description: 「研究成果報告書概要(欧文)」より