Article
Two novel mutations in the ATP2C1 gene found in Japanese patients with Hailey-Hailey disease.
The Journal of dermatology - 1 Jun 2022
Miyazaki Shun, Nakano Hajime, Mizuno Maki, Ozaki Saeko, Hoashi Toshihiko, Kanda Naoko, Saeki Hidehisa
Abstract excerpt
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...
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