Skip to main content
SpringerLink
Log in

Recurring G12S Mutation of HRAS in a Chinese Child with Costello Syndrome with High Alkaline Phosphatase Level

  • Note
  • Published:
Biochemical Genetics Aims and scope Submit manuscript

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

References

  • Aoki Y, Niihori T, Kawame H, Kurosawa K, Ohashi H, Tanaka Y, Filocamo M, Kato K, Suzuki Y, Kure S, Matsubara Y (2005) Germline mutations in HRAS proto-oncogene cause Costello syndrome. Nat Genet 37(10):1038–1040

    Article  CAS  PubMed  Google Scholar 

  • Aoki Y, Niihori T, Narumi Y, Kure S, Matsubara Y (2008) The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders. Hum Mutat 29(8):992–1006

    Article  CAS  PubMed  Google Scholar 

  • Bos JL (1989) Ras oncogenes in human cancer: a review. Cancer Res 49(17):4682–4689

    CAS  PubMed  Google Scholar 

  • Costello JM (1977) A new syndrome: mental subnormality and nasal papillomata. Aust Paediatr J 13(2):114–118

    CAS  PubMed  Google Scholar 

  • Gripp KW, Innes AM, Axelrad ME, Gillan TL, Parboosingh JS, Davies C, Leonard NJ, Lapointe M, Doyle D, Catalano S, Nicholson L, Stabley DL, Sol-Church K (2008) Costello syndrome associated with novel germline HRAS mutations: an attenuated phenotype? Am J Med Genet A 146A(6):683–690

    Article  CAS  PubMed  Google Scholar 

  • Hou JW (2008) Rapidly progressive scoliosis after successful treatment for osteopenia in Costello syndrome. Am J Med Genet A 146(3):393–396

    PubMed  Google Scholar 

  • Kerr B, Delrue MA, Sigaudy S, Perveen R, Marche M, Burgelin I, Stef M, Tang B, Eden OB, O’Sullivan J, De Sandre-Giovannoli A, Reardon W, Brewer C, Bennett C, Quarell O, M’Cann E, Donnai D, Stewart F, Hennekam R, Cave H, Verloes A, Philip N, Lacombe D, Levy N, Arveiler B, Black G (2006) Genotype–phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases. J Med Genet 43(5):401–405

    Article  CAS  PubMed  Google Scholar 

  • Lo IF, Brewer C, Shannon N, Shorto J, Tang B, Black G, Soo MT, Ng DK, Lam ST, Kerr B (2008) Severe neonatal manifestations of Costello syndrome. J Med Genet 45(3):167–171

    Article  CAS  PubMed  Google Scholar 

  • Tartaglia M, Pennacchio LA, Zhao C, Yadav KK, Fodale V, Sarkozy A, Pandit B, Oishi K, Martinelli S, Schackwitz W, Ustaszewska A, Martin J, Bristow J, Carta C, Lepri F, Neri C, Vasta I, Gibson K, Curry CJ, Siguero JP, Digilio MC, Zampino G, Dallapiccola B, Bar-Sagi D, Gelb BD (2007) Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome. Nat Genet 39(1):75–79

    Article  CAS  PubMed  Google Scholar 

  • Tolaymat N, de Melo MC (2000) Benign transient hyperphosphatasemia of infancy and childhood. South Med J 93(12):1162–1164

    CAS  PubMed  Google Scholar 

Download references

Acknowledgments

The authors thank Dr. John W. Callahan, the Hospital for Sick Children, Toronto, Canada, and Dr. Gustavo Maegawa, The McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins School of Medicine, Baltimore, MD, USA, for manuscript revision and diagnosis of this case, and the patient’s family who took part in the study. The authors declare no conflict of interest. The study was supported by the Health Bureau of Shanghai (2007145) to Huiwen Zhang and Hi-tech Research and Development Program of China (2007AA02Z447) to Xuefan Gu.

Author information

Authors and Affiliations

  1. Department of Pediatric Endocrinology and Genetic Metabolism, Xinhua Hospital, Shanghai Institute for Pediatric Research, Shanghai Jiao Tong University School of Medicine, Kongjiang Road 1665, Shanghai, 200092, China

    Huiwen Zhang, Jun Ye & Xuefan Gu

Authors
  1. Huiwen Zhang
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Jun Ye
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Xuefan Gu
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Xuefan Gu.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Zhang, H., Ye, J. & Gu, X. Recurring G12S Mutation of HRAS in a Chinese Child with Costello Syndrome with High Alkaline Phosphatase Level. Biochem Genet 47, 868–872 (2009). https://doi.org/10.1007/s10528-009-9286-7

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s10528-009-9286-7

Keywords

Search

Navigation