Springer Nature is making SARS-CoV-2 and COVID-19 research free. View research | View latest news | Sign up for updates

Cowden’s disease with a defined genetic alteration—Chromosomal duplication at 15q11–q13

  • 38 Accesses

  • 5 Citations

Abstract

Cowden’s disease, multiple hamartoma syndrome, is a dominantly inherited disorder characterized by multiple hamartomas of ectodermal, endodermal, and mesodermal origin and also by a high incidence of malignant tumors. Despite many efforts to identify the genetic alterations responsible for the syndrome, the molecular mechanism remains unclear. We report a case of Cowden’s disease in which karyotype analysis revealed a small duplication (about 1 Mb) at 15q11–q13. This part of the genome is a region that is deleted in the Prader-Willi/Angelman syndrome and is a “hot spot” of chromosomal duplication.

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

References

  1. 1.

    Lloyd KM, Dennis M. Cowden’s disease: A possible new symptom complex with multiple system involvement. Ann Intern Med 1963;58:136–142.

  2. 2.

    Fearon ER, Vogelstein B. A genetic model for colorectal tumorigenesis. Cell 1990;61:759–767.

  3. 3.

    Stannk TM, Van der Veen JPW, Arwert F. The Cowden syndrome: A clinical and genetic study in 21 patients. Clin Genet 1986;29:222–233.

  4. 4.

    Nicholls RD. Genomic imprinting and candidate genes in the Prader Willi and Angelman syndromes. Curr Opin Genet Dev 1993;3:445–456.

  5. 5.

    Crolla JA, Harvery JF, Sitch FL, et al. Supernumerary marker 15 chromosomes: A clinical, molecular and FISH approach to diagnosis and prognosis. Hum Genet 1995;95:161–170.

  6. 6.

    Malcolm S, Donlon TA. Report of the Second International Workshop on Human Chromosome 15 mapping, 1994. Cytogenet Cell Genet 1994;67:1–36.

  7. 7.

    Ozcelik T. Small nuclear ribonucleoprotein polypeptide N (SNRPN), an expressed gene in the Prader-Willi syndrome critical region. Nature Genet 1992;2:265–269.

  8. 8.

    Woodage T, Lindeman R, Deng ZM, et al. Physical mapping studies at D15S10: Implications for candidate genes identification in the Angelman syndrome/Prader-Willi syndrome chromosome region of 15q11-13. Genomics 1994;19:170–172.

  9. 9.

    Scheffner M, Huibretse JM, Vierstra RD, et al. The HPV-16 E6 and E6-AP complex functions as a ubiquitin protein ligase in the ubiquitination of p53. Cell 1993;75:495–505.

  10. 10.

    Williard W, Borgen P, Bol R, et al. Cowden disease: A case report with analysis at the molecular level. Cancer 1992;69:2969–2974.

Download references

Author information

Correspondence to Kazumasa Miki.

Rights and permissions

Reprints and Permissions

About this article

Cite this article

Suzuki, T., Ichinose, M., Matsubara, Y. et al. Cowden’s disease with a defined genetic alteration—Chromosomal duplication at 15q11–q13. J Gastroenterol 32, 696–699 (1997). https://doi.org/10.1007/BF02934124

Download citation

Key words

  • Cowden’s disease
  • Prader-Willi/Angelman syndrome