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Detection of RASA1 mutations in patients with sporadic Sturge–Weber syndrome

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Abstract

Objective

The aim of this study was to identify RASA1 mutation in Chinese population with sporadic Sturge–Weber syndrome (SWS).

Methods

Genomic DNA was obtained from peripheral blood of nine patients with sporadic SWS. The 25 exons, promoter regions (−1,000 bp) as well as intron-exon boundaries of RASA1 were amplified by polymerase chain reaction, and products were sequenced directly.

Results

A novel synonymous mutation (c.1229 G > A [p.K420K]) of RASA1 was identified in the present series.

Conclusion

It implied that RASA1 may be not a virulence gene, but further study is needed to know RASA1 gene mutation in SWS patients.

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References

  1. Haslam R (1996) Neurocutaneous syndromes. In: Nelson WE, Behrman RE, Kliegman RM, Arvin AM (eds) Nelson textbook of pediatrics, 15th edn. W. B. Saunders, Philadelphia, pp 1707–1709

    Google Scholar 

  2. Jacobs AH, Walton RG (1976) The incidence of birthmarks in the neonate. Pediatrics 58:218–222

    PubMed  CAS  Google Scholar 

  3. Garzon MC, Huang JT, Enjolras O, Frieden IJ (2007) Vascular malformations. Part II: associated syndromes. J Am Acad Dermatol 56:541–564

    Article  PubMed  Google Scholar 

  4. Eerola I, Boon LM, Mulliken JB, Burrows PE, Dompmartin A, Watanabe S, Vanwijck R, Vikkula M (2003) Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations. Am J Hum Genet 73:1240–1249

    Article  PubMed  CAS  Google Scholar 

  5. Hershkovitz D, Bergman R, Sprecher E (2008) A novel mutation in RASA1 causes capillary malformation and limb enlargement. Arch Dermatol Res 300(7):385–388

    Article  PubMed  CAS  Google Scholar 

  6. Boon LM, Mulliken JB, Vikkula M (2005) RASA1: variable phenotype with capillary and arteriovenous malformations. Curr Opin Genet Dev 15(3):265–269

    Article  PubMed  CAS  Google Scholar 

  7. Revencu N, Boon LM, Mulliken JB, Enjolras O, Cordisco MR, Burrows PE, Clapuyt P, Hammer F, Dubois J, Baselga E, Brancati F, Carder R, Quintal JM, Dallapiccola B, Fischer G, Frieden IJ, Garzon M, Harper J, Johnson-Patel J, Labrèze C, Martorell L, Paltiel HJ, Pohl A, Prendiville J, Quere I, Siegel DH, Valente EM, Van Hagen A, Van Hest L, Vaux KK, Vicente A, Weibel L, Chitayat D, Vikkula M (2008) Parkes Weber syndrome, vein of galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations. Hum Mutat 29(7):959–965

    Article  PubMed  CAS  Google Scholar 

  8. Eerola I, Boon LM, Watanabe S, Grynberg H, Mulliken JB, Vikkula M (2002) Locus for susceptibility for familial capillary malformation (‘port-wine stain’) maps to 5q. Eur J Hum Genet 10:375–380

    Article  PubMed  CAS  Google Scholar 

  9. Whelan AJ, Watson MS, Porter FD, Steiner RD (1995) Klippel–Trenaunay–Weber syndrome associated with a 5:11 balanced translocation. Am J Med Genet 59:492–494

    Article  PubMed  CAS  Google Scholar 

  10. Bodensteiner JB, Roach ES (1999) Sturge–Weber syndrome: introduction and overview. In: Bodensteiner JB, Roach ES (eds) Sturge–Weber syndrome. Sturge–Weber Foundation, Mt Freedom, pp 1–9

    Google Scholar 

  11. Rocco CD, Tamburini G (2006) Sturge -Weber syndrome. Childs Nerv Syst 22:909–921

    Article  PubMed  Google Scholar 

  12. Comi AM, Hunt P, Vawter MP, Pardo CA, Becker KG, Pevsner J (2003) Increased fibronectin expression in Sturge–Weber syndrome fibroblasts and brain tissue. Pediatr Res 53:762–769

    Article  PubMed  CAS  Google Scholar 

  13. Trahey M, McCormick F (1987) A cytoplasmic protein stimulates normal N-ras p21 GTPase, but does not affect oncogenic mutants. Science 238:542–545

    Article  PubMed  CAS  Google Scholar 

  14. Glanzer JG, Liao L, Baker T, McMullen MH, Langan AS, Crandall LZ, Vorce RL (2002) Organization and regulation of the human rasGAP gene. Gene 285:149–156

    Article  PubMed  CAS  Google Scholar 

  15. Ballester R, Marchuk D, Boguski M, Saulino A, Letcher R, Wigler M, Collins F (1990) The NF1 locus encodes a protein functionally related to mammalian GAP and yeast IRA proteins. Cell 63:851–859

    Article  PubMed  CAS  Google Scholar 

  16. Friedman E, Gejman PV, Martin GA, McCormick F (1993) Nonsense mutations in the C-terminal SH2 region of the GTPase activating protein (GAP) gene in human tumours. Nat Genet 5:242–247

    Article  PubMed  CAS  Google Scholar 

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Acknowledgements

We thank all the patients and their families for their invaluable participation. This project is supported by the National Natural Science Foundation of China (grant no. 30672329).

Conflict of interests

All authors declare that they have no conflicts of interests.

Author information

Authors and Affiliations

  1. Department of Oral and Maxillofacial Surgery, Ninth People’s Hospital, College of Stomatology, Shanghai Jiao Tong University School of Medicine, Shanghai Key Lab of Stomatology, Shanghai, 200011, China

    Qin Zhou, Jia-wei Zheng & Xiu-juan Yang

  2. The Key Laboratory of Molecular Medicine, Ministry of Education, Shanghai Medical College, Fudan University, Shanghai, 200032, China

    Hui-jun Wang & Duan Ma

  3. Institutes of Biomedical Sciences, Center for Birth Defects, Fudan University, Shanghai, 200032, China

    Hui-jun Wang & Duan Ma

  4. Special Department of Hemangioma, Tumor Hospital of Linyi City, Linyi, 276000, Shandong Province, China

    Zhong-ping Qin

Authors
  1. Qin Zhou
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  2. Jia-wei Zheng
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  3. Xiu-juan Yang
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  4. Hui-jun Wang
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  5. Duan Ma
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  6. Zhong-ping Qin
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Correspondence to Jia-wei Zheng or Duan Ma.

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Zhou, Q., Zheng, Jw., Yang, Xj. et al. Detection of RASA1 mutations in patients with sporadic Sturge–Weber syndrome. Childs Nerv Syst 27, 603–607 (2011). https://doi.org/10.1007/s00381-010-1258-z

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  • DOI: https://doi.org/10.1007/s00381-010-1258-z

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