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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.

Published on Jun 1, 2005in Journal of Investigative Dermatology6.29
· DOI :10.1111/j.0022-202X.2005.23732.x
Noboru Suzuki21
Estimated H-index: 21
(Nagoya University),
Tamio Suzuki24
Estimated H-index: 24
(Nagoya University)
+ 15 AuthorsYasushi Tomita33
Estimated H-index: 33
(Nagoya University)
Abstract
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. We did not establish any clear correlation between the clinical phenotypes and the genotypes of ADAR1 gene mutations in our examination of 16 cases plus four pedigrees. None of the different mutations identified in our studies of 20 cases suggested any founder effect. Furthermore, we did not identify any mutations in the ADAR1 gene of three patients with dyschromatosis universalis hereditaria or three patients with acropigmentatio reticularis, indicating that the two diseases are completely different from DSH, although they have sometimes been suggested to be phenotypical variations of DSH.
  • References (26)
  • Citations (58)
References26
Newest
#1X. Zhang (Anhui Medical University)H-Index: 68
#2Ping-Ping He (Anhui Medical University)H-Index: 14
Last.Jian-Jun Chen (Anhui Medical University)H-Index: 14
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#1Ulrike A. Nuber (MPG: Max Planck Society)H-Index: 17
#2Sigrid Tinschert (MPG: Max Planck Society)H-Index: 33
Last.Ingrid Hauber (Heidelberg University)H-Index: 1
view all 4 authors...
#1Dan Sung C Cho (UPenn: University of Pennsylvania)H-Index: 1
#2Weidong Yang (UPenn: University of Pennsylvania)H-Index: 3
Last.Kazuko Nishikura (UPenn: University of Pennsylvania)H-Index: 3
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Cited By58
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#1Swetalina Pradhan (AIIMS: All India Institute of Medical Sciences)H-Index: 2
#2Kananbala Sahu (AIIMS: All India Institute of Medical Sciences)
#1Marwa Chourabi (Agency for Science, Technology and Research)H-Index: 2
#2Mei Shan Liew (""L'Oréal"": L'Oréal)H-Index: 1
Last.Kim Robinson (Agency for Science, Technology and Research)H-Index: 3
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#1Qi Liu (MOE: Chinese Ministry of Education)H-Index: 1
#2Zhen Wang (Shenyang)H-Index: 1
Last.Yang Luo (MOE: Chinese Ministry of Education)H-Index: 13
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View next paperMutations of the RNA-Specific Adenosine Deaminase Gene (DSRAD) Are Involved in Dyschromatosis Symmetrica Hereditaria