Abstract
Dyschromatosis symmetrica hereditaria (DSH) is an autosomal dominant skin disorder characterized by a mixture of hyperpigmented and hypopigmented macules distributed on the face and dorsal aspects of the extremities that appear in infancy or early childhood. The DSH locus has recently been mapped to chromosome 1q21 and then pathogenic mutations have been identified in the DSRAD gene. In the study reported here we examined the DSRAD gene mutations of a three-generation Chinese pedigree with DSH by direct sequencing. We identified a novel heterozygous nucleotide T→C transition at position 3388 in exon 14 of the DSRAD gene which induces a C1130R change in the putative deaminase domain of DSRAD. Our study expands the database on the DSRAD gene mutations in DSH and enriches the knowledge about the function of the DSRAD gene.
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References
Toyama I (1929) Dyschromatosis symmetrica hereditaria. Jpn J Dermatol 27:95–96
Ostlere LS, Ratnavel RC, Lawlor F, Black MM, Griffiths WA (1995) Reticulate acropigmentation of Dohi. Clin Exp Dermatol 20:477–479
Oyama M, Shimizu H, Ohata Y, Tajima S, Nishikawa T (1999) 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 140:491–496
Xing QH, Wang MT, Chen XD, Feng GY, Ji HY, Yang JD, Gao JJ, Qin W, Qian XQ, Wu SN, He L (2003) A gene locus responsible for dyschromatosis symmetrica hereditaria (DSH) maps to chromosome 6q24.2-q25.2. Am J Hum Genet 73:377–382
Zhang XJ, Gao M, Li M, Li M, Li CR, Cui Y, He PP, Xu SJ, Xiong XY, Wang ZX, Yuan WT, Yang S, Huang W (2003) Identification of a locus for dyschromatosis symmetrica hereditaria at chromosome 1q11-1q21. J Invest Dermatol 120:776–780
Urabe K, Hori Y (1997) Dyschromatosis. Semin Cutan Med Surg 16:81–85
Alfadley A, Al Ajlan A, Hainau B, Pedersen KT, Al Hoqail I (2000) Reticulate acropigmentation of Dohi: a case report of autosomal recessive inheritance. J Am Acad Dermatol 43:113–117
Miyamura Y, Suzuki T, Kono M, Inagaki K, Ito S, Suzuki N, Tomita Y (2003) Mutations of the RNA-specific adenosine deaminase gene (DSRAD) are involved in dyschromatosis symmetrica hereditaria. Am J Hum Genet 73:693–699
Zhang XJ, He PP, Li M, He CD, Yan KL, Cui Y, Yang S, Zhang KY, Gao M, Chen JJ, Li CR, Jin L, Chen HD, Xu SJ, Huang W (2004) Seven novel mutations of the ADAR gene in Chinese families and sporadic patients with dyschromatosis symmetrica hereditaria (DSH). Hum Mutat 23:629–630
Liu Q, Liu W, Jiang L, Sun M, Ao Y, Zhao X, Song Y, Lo WH, Zhang X (2004) Novel mutations of the RNA-specific adenosine deaminase gene (DSRAD) in Chinese families with dyschromatosis symmetrica hereditaria. J Invest Dermatol 122:896–899
Li M, Jiang YX, Liu JB, Yang S, He PP, Gao M, Wei SC, Yan KL, Huang W, Zhang XJ (2004) A novel mutation of the DSRAD gene in a Chinese family with dyschromatosis symmetrica hereditaria. Clin Exp Dermatol 29:533–535
He PP, He CD, Cui Y, Yang S, Xu HH, Li M, Yuan WT, Gao M, Liang YH, Li CR, Xu SJ, Chen JJ, Chen HD, Huang W, Zhang XJ (2004) 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 150:633–639
Bass BL (2002) RNA editing by adenosine deaminases that act on RNA. Annu Rev Biochem 71:817–846
Herbert A, Wagner S, Nickerson JA (2002) Induction of protein translation by ADAR1 within living cell nuclei is not dependent on RNA editing. Mol Cell 10:1235–1246
O’Connell MA, Krause S, Higuchi M, Hsuan JJ, Totty NF, Jenny A, Keller W (1995) Cloning of cDNAs encoding mammalian double-stranded RNA-specific adenosine deaminase. Mol Cell Biol 15:1389–1397
Wang Y, Zeng Y, Murray JM, Nishikura K (1995) Genomic organization and chromosomal location of the human dsRNA adenosine deaminase gene: the enzyme for glutamate-activated ion channel RNA editing. J Mol Biol 254:184–195
Acknowledgements
This work was funded by grants from the Chinese High-Tech Program (863) (2002BA711A10). We are most grateful to all members of the DSH family for taking part in our study.
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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 296, 543–545 (2005). https://doi.org/10.1007/s00403-005-0546-z
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DOI: https://doi.org/10.1007/s00403-005-0546-z