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Two novel mutations in the ATP2C1 gene found in Japanese patients with Hailey-Hailey disease.

Shun MiyazakiHajime NakanoMaki MizunoSaeko OzakiToshihiko HoashiNaoko KandaHidehisa Saeki
Published in: The Journal of dermatology (2022)
Hailey-Hailey disease (HHD) is an autosomal dominant genodermatosis and the defective gene in HHD is ATP2C1, which encodes secretory pathway Ca 2+ /Mn 2+ ATPase type 1 (SPCA1). Here we report four Japanese HHD patients showing three kinds of mutations with premature termination codons in the ATP2C1 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.
Keyphrases
  • case report
  • early onset
  • genome wide
  • end stage renal disease
  • chronic kidney disease
  • newly diagnosed
  • ejection fraction
  • dna methylation
  • smoking cessation
  • replacement therapy
  • data analysis
  • drug induced