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Mutation analysis of the ADAR1 gene in dyschromatosis symmetrica hereditaria and genetic differentiation from both dyschromatosis universalis hereditaria and acropigmentatio reticularis

Suzuki, N.; Suzuki, T.; Inagaki, K.; Ito, S.; Kono, M.; Fukai, K.; Takama, H.; Sato, K.; Ishikawa, O.; Abe, M.; Shimizu, H.; Kawai, M.; Horikawa, T.; Yoshida, K.; Matsumoto, K.; Terui, T.; Tsujioka, K.; Tomita, Y.

Journal of Investigative Dermatology 124(6): 1186-1192

2005

ISSN/ISBN: 0022-202X
PMID: 15955093
DOI: 10.1111/j.0022-202x.2005.23732.x
Accession: 012335599
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Dyschromatosis symmetrica hereditaria (DSH) (also called "reticulate acropigmentation of Dohi") is a pigmentary genodermatosis of autosomal dominant inheritance. We have clarified for the first time four pathological mutations of the double-stranded RNA-specific adenosine deaminase gene (ADAR1 or DSRAD) in four DSH pedigrees. In this paper, we report 16 novel mutations containing six missense substitutions (p.V906F, p.K1003R, p.G1007R, p.C1036S, p.S1064F, p.R1078C), two splice site mutations (IVS2+2T > G, IVS8+2T > A), six frameshift mutations (p.H216fs, p.K433fs, p.G507fs, p.P727fs, p.V955fs, p.K1201fs), and two nonsense mutations (p.R426X, p.Q600X) found in Japanese patients with DSH.

Mutation analysis of the ADAR1 gene in dyschromatosis symmetrica hereditaria and genetic differentiation from both dyschromatosis universalis hereditaria and acropigmentatio reticularis

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