Identification of a novel DSRAD gene mutation in a Chinese family with dyschromatosis symmetrica hereditaria

Clinical and Experimental Dermatology

Volumn 33, Issue 5, 2008, Pages 644-646

  Li, M ^a   Yang, L J ^a   Zhu, X H ^a  

^a WUXI NO 2 PEOPLE S HOSPITAL   (China)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA;

ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; CHINESE; CLINICAL FEATURE; DNA EXTRACTION; DSRAD GENE; DYSCHROMATOSIS SYMMETRICA HEREDITARIA; GENE; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; HUMAN; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SKIN PIGMENTATION;

ADENOSINE DEAMINASE; ADOLESCENT; ASIAN CONTINENTAL ANCESTRY GROUP; CHINA; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; MALE; MUTATION; PEDIGREE; PIGMENTATION DISORDERS;

EID: 49649106275     PISSN: 03076938     EISSN: 13652230     Source Type: Journal    
DOI: 10.1111/j.1365-2230.2008.02887.x     Document Type: Article

References (11)

1. Ostlere LS, Ratnavel RC, Lawlor F et al. Reticulate acropigmentation of Dohi. Clin Exp Dermatol 1995 20: 477 9.
2. 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.
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 dyschromatosis symmetrica hereditaria. Am J Hum Genet 2003 73: 693 9.
5. O'Connell MA, Krause S, Higuchi M et al. Cloning of cDNAs encoding mammalian double-stranded RNA-specific adenosine deaminase. Mol Cell Biol 1995 15: 1389 97.
6. Wang Q, Miyakoda M, Yang W et al. Stress-induced apoptosis associated with null mutation of ADAR1 RNA editing deaminase gene. J Biol Chem 2004 279: 4952 61.
7. 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 254: 184 95.
8. Chao SC, Lee JY, Sheu HM et al. A novel deletion mutation of the DSRAD gene in a Taiwanese patient with dyschromatosis symmetrica hereditaria. Br J Dermatol 2005 153: 1064 6.
9. Li M, Li C, Hua H et al. Identification of two novel mutations in Chinese patients with dyschromatosis symmetrica hereditaria. Arch Dermatol Res 2005 297: 196 200.
10. Suzuki N, Suzuki T, Inagaki K et al. Ten novel mutations of the ADAR1 gene in Japanese patients with dyschromatosis symmetrica hereditaria. J Invest Dermatol 2006 127: 309 11.
11. Liu Q, Jiang L, Liu WL et al. Two novel mutations and evidence for haploinsufficiency of the ADAR gene in dyschromatosis symmetrica hereditaria. Br J Dermatol 2006 154: 636 42.