González HNC, González HLM, Rivera VMR, Mendoza E, Márquez L, Cuevas CSA

Language: Spanish
References: 16
Page: 141-145
PDF size: 232.90 Kb.

ABSTRACT

Noonan syndrome (SN [MIM 163950]) is a clinically heterogeneous disease characterized by short stature, facial dysmorphism and a wide spectrum of cardiac defects present at birth. The diagnosis is made clinically, although this can be very difficult because it presents a great variability in phenotypic expression. The aim of this study was the molecular analysis of the gene PTPN11 in a sample of Mexican patients with sporadic Noonan syndrome. In our patients, it was not possible to characterize any mutation in the gene PTPN11 causative of Noonan syndrome, this was perhaps because the cases were sporadic. In this study we found that Noonan syndrome was not due to mutations in the gene PTPN11.

REFERENCES

1. Noonan JA. Hypertelorism with Turner phenotype. A new syndrome with associated congenital heart disease. Am J Dis Child 1968; 116: 373–380.

2. Allanson JE. Noonan syndrome. J Med Genet 1987; 24:9–13.

3. Marino B, Digilio MC, Toscano A, Giannotti A, Dallapiccola B. Congenital heart diseases in children with Noonan syndrome: An expanded cardiac spectrum with high prevalence of atrioventricular canal. J Pediatr 1999; 135: 703–706.

4. Bertola DR, Pereira AC, Albano LMJ, De Oliveira PSL, Kim ChA, Krieger JE. PTPN11 gene analysis in 74 Brazilian patients with Noonan syndrome or Noonan-like phenotipe. Genet Test 2006; 10 (3): 186-191.

5. Allanson JE, Hall JG, Hughes HE, Preus M, Witt RD. Noonan syndrome: The changing phenotype. Am J Med Genet 1985; 21: 507-514.

6. van der Burgt I, Berends E, Lommen E, van Beersum S, Hamel B, Mariman E. Clinical and molecular studies in a large Dutch family with Noonan syndrome. Am J Med Genet 1994; 53: 187-191.

7. Preus M. Differential diagnosis of the Williams and the Noonan syndromes. Clin Genet 1984; 25: 429-434.

8. Sharland M, Burch M, McKenna WM, Patton MA. A clinical study of Noonan syndrome. Arch Dis Child 1992; 67: 178-183.

9. Neel BG, Gu H, Pao L. The Shping news: SH2 domain-containing tyrosine phosphatases in cell signaling. Trends Biochem Sci 2003; 28: 284-293.

10. Tartaglia M, Mehler EL, Goldberg R, Zampino G, Brunner HG, Kremer H et al. Mutations in PTPN11 encoding the protein tyrosine phosphatase SHP-2 cause Noonan syndrome. Nat Genet 2001; 29: 465-468.

11. Tartaglia M, Cordeddu V, Chang H, Shaw A, Kalidas K, Crosby A et al. Paternal germline origin and sex-ratio distortion in transmission of PTPN11 mutations in Noonan syndrome. Am J Hum Genet 2004; 75: 492-497.

12. Tartaglia M, Gelb BD. Noonan syndrome and related disorders: Genetics and pathogenesis. Ann Rev Genomics Hum Genet 2005; 6: 45-68.

13. Tartaglia M, Mehler EL, Goldberg R, Zampino G, Brunner HG, Kremer H, van der Burgt I, Crosby AH, Ion A, Jeffery S, Kalidas K, Patton MA, Kucherlapati RS, Gelb BD. Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. Nat Genet 2001; 29: 465-468.

14. van der Burgt I. Review Noonan syndrome. Orphanet J Rare Dis 2007; 2: 4.

15. Cuevas-Covarrubias SA, Jimenez-Vaca AL, Gonzalez-Huerta LM, Valdes-Flores M, Del Refugio Rivera-Vega M, Maya-Nunez G, Kofman-Alfaro SH. Somatic and germinal mosaicism for the steroid sulfatase gene deletion in a steroid sulfatase deficiency carrier. J Invest Dermatol 2002; 119 (4): 972-975.

16. Jongmans M, Sistermans EA, Rikken A, Nillisen WM, Tamminga R, Patton M, Maier EM, Tartaglia M, Noordam K, van der Burgt I. Genotypic and phenotypic characterization of Noonan syndrome: New data and review of the literature. Am J Med Genet A 2005; 134: 165-170.