Skip to main content

Advertisement

SpringerLink
Log in

Identification of two novel DSRAD mutations in two Chinese families with dyschromatosis symmetrica hereditaria

  • Short Communication
  • Published:
Archives of Dermatological Research Aims and scope Submit manuscript

Abstract

Dyschromatosis symmetrica hereditaria (DSH) is a hereditary skin disease characterized by the presence of hyperpigmented and hypopigmented macules on face and dorsal aspects of the extremities that appear in infancy or early childhood. Genetic studies have identified mutations in the double-stranded RNA-specific adenosine deaminase (DSRAD) gene, encoding double-stranded RNA-specific adenosine deaminase, to be responsible for this disorder. Here, we report two novel mutations c.2116 G > A (E706K) and c.2848 C > T (Q950X) in the DSRAD gene identified in two Chinese pedigrees with DSH. This study should be useful for genetic counseling and prenatal diagnosis for affected families and in expanding the database on DSRAD gene mutations in DSH.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1
Fig. 2
Fig. 3

References

  1. 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

    Article  PubMed  CAS  Google Scholar 

  2. Cui Y, Wang J, Yang S, Gao M, Chen JJ, Yan KL, Xiao FL, Huang W, Zhang XJ (2005) Identification of a novel mutation in the DSRAD gene in a Chinese pedigree with dyschromatosis symmetrica hereditaria. Arch Dermatol Res 141:193–196

    Article  Google Scholar 

  3. Gao M, Wang PG, Yang S, Hu XL, Zhang KY, Zhu YG, Ren YQ, Du WH, Zhang GL, Cui Y, Chen JJ, Yan KL, Xiao FL, Xu SJ, Huang W, Zhang XJ (2005) Two frameshift mutations in the RNA-specific adenosine deaminase gene associated with Dyschromatosis symmetrica hereditaria. Arch Dermatol 141:193–196

    Article  PubMed  CAS  Google Scholar 

  4. Li CR, Li M, Ma HJ, Luo D, Yang LJ, Wang DG, Zhu XH, Yue XZ, Chen WQ, Zhu WY (2005) A new arginine substitution mutation of the DSRAD gene in a Chinese family with Dyschromatosis symmetrica hereditaria. J Dermatol Sci 37:95–99

    Article  PubMed  CAS  Google Scholar 

  5. 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

    Article  PubMed  CAS  Google Scholar 

  6. Li M, Li CR, Hua HK, Zhu WY, Lu Y, Yang LJ (2005) Identification of two novel mutations in Chinese patients with dyschromatosis symmetrica hereditaria. Arch Dermatol Res 297:196–200

    Article  PubMed  CAS  Google Scholar 

  7. Liu Q, Liu W, Jiang L, Sun M, Ao Y, Zhao X, Song Y, Luo 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

    Article  PubMed  CAS  Google Scholar 

  8. 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

    Article  PubMed  CAS  Google Scholar 

  9. 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

    PubMed  CAS  Google Scholar 

  10. Ostlere LS, Ratnavel RC, Lawlor F, Black MM, Griffiths WA (1995) Reticulate acropigmentation of Dohi. Clin Exp Dermatol 20:477–479

    Article  PubMed  CAS  Google Scholar 

  11. Schade M, Turner CJ, Kuhne R, Schmieder P, Lowenhaupt K, Herbert A, Rich A, Oschkinat H (1999) The solution structure of the Zalpha domain of the human RNA editing enzyme ADAR1 reveals a prepositioned binding surface for Z-DNA. Proc Natl Acad Sci USA 96:12465–12470

    Article  PubMed  CAS  Google Scholar 

  12. Sun XK, Xu AE, Chen JF, Tang X (2005) The double-RNA-specific adenosine deaminase (DSRAD) gene in dyschromatosis symmetrica hereditaria: two novel mutations and one previously described. Br J Dermatol 153:342–345

    Article  PubMed  CAS  Google Scholar 

  13. 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 (2005) Mutation analysis of ARAD1 gene in dyschromatosis symmetrica hereditaria and genetic differentiation from both dyschromatosis universalis hereditaria and acropigmentation reticularis. J Invest Dermatol 124:1186–1192

    Article  PubMed  CAS  Google Scholar 

  14. Urabe K, Hori Y (1997) Dyschromatosis. Semin Cutan Med Surg 16:81–85

    Article  PubMed  CAS  Google Scholar 

  15. 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

    Article  PubMed  CAS  Google Scholar 

  16. Xing Q, Wang M, Chen X, Qian X, Qin Q, Gao J, Wu S, Gao R, Feng G, He L (2005) Identification of a novel ADAR mutation in a Chinese family with dyschromatosis symmetrica hereditaria (DSH). Arch Dermatol Res 297:139–142

    Article  PubMed  CAS  Google Scholar 

  17. Zhang XJ, Gao 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

    Article  PubMed  CAS  Google Scholar 

  18. 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 3:629–630

    Article  Google Scholar 

Download references

Acknowledgments

We are most grateful to all members of dyschromatosis symmetric hereditaria families for participating in this study.

Author information

Authors and Affiliations

  1. Department of Dermatology, Third Xiangya Hospital, Central South University, Changsha, Hunan, 410013, People’s Republic of China

    Jianyun Lu, Zhaohui Liao, Jing Chen, Yaping Xiang, Zhiqiang Wu, Chengxin Zuo, Xianzhen Jiang & Jinhua Huang

Authors
  1. Jianyun Lu
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Zhaohui Liao
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Jing Chen
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Yaping Xiang
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Zhiqiang Wu
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Chengxin Zuo
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. Xianzhen Jiang
    View author publications

    You can also search for this author in PubMed Google Scholar

  8. Jinhua Huang
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Jianyun Lu.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Lu, J., Liao, Z., Chen, J. et al. Identification of two novel DSRAD mutations in two Chinese families with dyschromatosis symmetrica hereditaria. Arch Dermatol Res 298, 357–360 (2007). https://doi.org/10.1007/s00403-006-0701-1

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00403-006-0701-1

Keywords

Search

Navigation