A new c.2541delC mutation in the ATP2A2 gene in a Japanese patient with Darier's disease

Abstract

References1 Grover RW. Transient acantholytic dermatosis. Arch Dermatol 1970; 101: 426-434. 2 Quirk CJ, Heenan PJ. Grover' disease: 34 years on. Australas J Dermatol 2004; 45: 83-86; quiz 87-88. 3 Scheinfeld N, Mones J. Seasonal variation of transient acantholytic dyskeratosis (Grover's disease). J Am Acad Dermatol 2006; 55: 263-268. 4 Davis MD, Dinneen AM, Landa N, Gibson LE. Grover's disease: clinicopathologic review of 72 cases. Mayo Clin Proc 1999; 74: 229-234. 5 Eros N, Kovács A, Karolyi Z. Successful treatment of transient acantholytic dermatosis with systemic steroids. J Dermatol 1998; 25: 469-475. 6 Dantzig PI. Parkinson's disease, macular degeneration and cutaneous signs of mercury toxicity.

Novel ATP2A2 mutations in a large sample of individuals with Darier disease

“…Interestingly, all three families had hemorrhagic lesions. A further four occurrences of the N767S mutation have also been reported in a single individual from four different studies originating from China, Japan, the UK and Italy, in addition to the occurrence in four apparently unrelated individuals (one sporadic case, two with family history of DD and one with unknown history) from this study. Furthermore, we also noted different amino acid substitutions at the same amino acid position in ATP2A2 caused by alterations of the same or neighboring nucleotides.…”

“…To date more than 187 pathogenic mutations have been described throughout the gene, including missense, nonsense, substitutions, insertions and deletions both frame‐shift and in‐frame (Miyauchi et al., for all references 2006 and earlier, and subsequent references). These mutations do not seem to cluster within “hot‐spot” regions throughout the primary sequence of the SERCA2b molecule and most are unique within individual families.…”