Two novel mutations in the <scp><i>ATP2C1</i></scp> gene found in Japanese patients with <scp>Hailey–Hailey</scp> disease

DOI Web Site Web Site 参考文献15件
  • Shun Miyazaki
    Department of Dermatology Nippon Medical School Tokyo Japan
  • Hajime Nakano
    Department of Dermatology Hirosaki University Graduate School of Medicine Hirosaki Japan
  • Maki Mizuno
    Department of Dermatology Nippon Medical School Tokyo Japan
  • Saeko Ozaki
    Department of Dermatology Nippon Medical School Tokyo Japan
  • Toshihiko Hoashi
    Department of Dermatology Nippon Medical School Tokyo Japan
  • Naoko Kanda
    Department of Dermatology Nippon Medical School Chiba Hokusoh Hospital Chiba Japan
  • Hidehisa Saeki
    Department of Dermatology Nippon Medical School Tokyo Japan

この論文をさがす

抄録

<jats:title>Abstract</jats:title><jats:p>Hailey–Hailey disease (HHD) is an autosomal dominant genodermatosis and the defective gene in HHD is <jats:italic>ATP2C1</jats:italic>, which encodes secretory pathway Ca<jats:sup>2+</jats:sup>/Mn<jats:sup>2+</jats:sup> ATPase type 1 (SPCA1). Here we report four Japanese HHD patients showing three kinds of mutations with premature termination codons in the <jats:italic>ATP2C1</jats:italic> gene, including two novel ones. Patient 1 was a 39‐year‐old man with a novel heterozygous mutation, c.664dup in exon 8 (p.N215Kfs*26). Patient 2 was a 33‐year‐old man (the younger brother of patient 1) with the same mutation as patient 1. Patient 3 was a 55‐year‐old man with a previously reported heterozygous mutation, c.519dup in exon 7 (p.R174Tfs*4). Patient 4 was a 33‐year‐old woman with a novel heterozygous mutation, c.2640del in exon 27 (p.L881Ffs*10). The clinical characteristics of our four cases varied in disease severity and the response to treatment. The present cases enrich the database of mutational analysis for HHD.</jats:p>

収録刊行物

参考文献 (15)*注記

もっと見る

関連プロジェクト

もっと見る

キーワード

問題の指摘

ページトップへ