Two frameshift mutations of the double-stranded RNA-specific adenosine deaminase gene in Chinese pedigrees with dyschromatosis symmetrica hereditaria

British Journal of Dermatology

Volumn 155, Issue 2, 2006, Pages 473-476

  Liu, Y ^a   Xiao, S X ^a   Peng, Z H ^a   Lei, X B ^a   Wang, J M ^a   Li, Y ^a   Li, X L ^a  

^a XI'AN JIAOTONG UNIVERSITY   (China)

Author keywords

Double stranded RNA specific adenosine deaminase (DSRAD); Dyschromatosis symmetrica hereditaria; Frameshift mutation; Mutation analysis

Indexed keywords

ADENOSINE DEAMINASE; DOUBLE STRANDED RNA;

ADULT; ARTICLE; CASE REPORT; DYSCHROMATOSIS SYMMETRICA HEREDITARIA; GENE LOCUS; GENE MUTATION; GENE SEQUENCE; GENODERMATOSIS; HETEROZYGOSITY; HISTOPATHOLOGY; HUMAN; HYPERPIGMENTATION; HYPOPIGMENTATION; JAPAN; MALE; PATHOGENESIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

ADENOSINE DEAMINASE; ADULT; BASE SEQUENCE; CHILD; FRAMESHIFT MUTATION; HUMANS; MALE; MOLECULAR SEQUENCE DATA; PEDIGREE; PIGMENTATION DISORDERS;

EID: 33745921819     PISSN: 00070963     EISSN: 13652133     Source Type: Journal    
DOI: 10.1111/j.1365-2133.2006.07223.x     Document Type: Article

References (15)

1. Oyama M, Shimizu H, Ohata Y et al. Dyschromatosis symmetrica hereditaria (reticulate acropigmentation of Dohi): report of a Japanese family with the condition and a literature review of 185 cases. Br J Dermatol 1999; 140:491-6.
2. He PP, He CD, Cui Y et al. Refined localization of dyschromatosis symmetrica hereditaria gene to a 9.4-cM region at 1q21-22 and a literature review of 136 cases reported in China. Br J Dermatol 2004; 150:633-9.
3. Zhang XJ, Gao M, Li M et al. Identification of a locus for dyschromatosis symmetrica hereditaria at chromosome 1q11-1q21. J Invest Dermatol 2003; 120:776-80.
4. Miyamura Y, Suzuki T, Kono M et al. Mutations of the RNA-specific adenosine deaminase gene (DSRAD) are involved in dyschromalosis symmetrica hereditaria. Am J Hum Genet 2003; 73:693-9.
5. Wang Y, Zeng Y, Murray JM et al. Genomic organization and chromosomal location of the human dsRNA adenosine deaminase gene: the enzyme for glutamate-activated ion channel RNA editing. J Mol Biol 1995; 15:1389-97.
6. Zhang XJ, He PP, Li M et al. Seven novel mutations of the ADAR gene in Chinese families and sporadic patients with dyschromatosis symmetrica hereditaria (DSH). Hum Mutat 2004; 23:629-30.
7. Liu Q, Liu WL, Li J et al. Novel mutations of the RNA-specific adenosine deaminase gene (DSRAD) in Chinese families with dyschromatosis symmetrica hereditaria. J Invest Dermatol 2004; 122:896-9.
8. Li M, Jiang YX, Liu JB et al. A novel mutation of the DSRAD gene in a Chinese family with dyschromatosis symmetrica hereditaria. Clin Exp Dermatol 2004; 29:533-5.
9. Yang Y, Li S, Li H et al. DSRAD gene mutations in three families with dyschromatosis symmetrica hereditaria. Beijing Da Xue Xue Bao 2004; 36:466-8.
10. Li CR, Li M, Ma HJ et al. A new arginine substitution mutation of DSRAD gene in a Chinese family with dyschromatosis symmetrica hereditaria. J Dermatol Sci 2005; 37:95-9.
11. Gao M, Wang PG, Yang S et al. Two frameshift mutations in the RNA-specific adenosine deaminase gene associated with dyschromatiosis symmetrica hereditaria. Arch Dermatol 2005; 141:193-6.
12. Cui Y, Wang J, Yang S et al. Identification of a novel mutation in the DSRAD gene in a Chinese pedigree with dyschromatosis symmetrica hereditaria. Arch Dermatol Res 2005; 296:543-5.
13. Suzuki N, Suzuki T, Inagaki K et al. Mutation analysis of the ADAR1 gene in dyschromatosis symmetrica hereditaria and genetic differentiation from both dyschromatosis universalis hereditaria and acropigmentatio reticularis. J Invest Dermatol 2005; 124:1186-92.
14. Sun XK, Xu AE, Chen JF, Tang X. The double-RNA-specific adenosine deaminase (DSRAD) gene in dyschromatosis symmetrica hereditaria patients: two novel mutations and one previously described. Br J Dermatol 2005; 153:342-5.
15. Chao SC, Lee JY, Sheu HM, Yang MH. A novel deletion mutation of the DSRAD gene in a Taiwanese patient with dyschromatosis symmetrica hereditaria. Br J Dermatol 2005; 153:1064-6.