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

Hailey-Hailey disease (HHD) is an autosomal dominant genodermatosis and the defective gene in HHD is ATP2C1, which encodes secretory pathway Ca2+ /Mn2+ 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. © 2022 Japanese Dermatological Association.

Citation

Shun Miyazaki, Hajime Nakano, Maki Mizuno, Saeko Ozaki, Toshihiko Hoashi, Naoko Kanda, Hidehisa Saeki. Two novel mutations in the ATP2C1 gene found in Japanese patients with Hailey-Hailey disease. The Journal of dermatology. 2022 Jun;49(6):656-660

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PMID: 35274376

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