Noonan syndrome: From phenotype to growth hormone therapy;Síndrome de Noonan: Do fenótipo à terapêutica com hormônio de crescimento

Arquivos Brasileiros de Endocrinologia e Metabologia

Volumn 52, Issue 5, 2008, Pages 800-808

  Malaquias De Moura Ribeiro, Alexsandra C ^a   Ferreira, Lize V ^a   Souza, Silvia C ^a   Arnhold, Ivo J P ^a   Mendonça, Berenice B ^a   Jorge, Alexander A L ^a  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

Author keywords

Failure to thrive genetics; Growth hormone pharmacology; Growth hormone therapeutic use; Medical; Noonan syndrome genetics; Noonan syndrome therapy

Indexed keywords

EID: 51949086459     PISSN: 00042730     EISSN: 16779487     Source Type: Journal    
DOI: 10.1590/s0004-27302008000500012     Document Type: Review

References (47)

1. Mendez HM, Opitz JM. Noonan syndrome: a review. Am J Med Genet. 1985;21:493-506.
2. Nora JJ, Nora AH, Sinha AK, Spangler RD, Lubs HA. The Ullrich-Noonan syndrome (Turner phenotype). Am J Dis Child. 1974;127:48-55.
3. Noonan JA, Ehmke DA. Associated noncardiac malformations in children with congenital heart disease. J Pediatr. 1963;63:468-70.
4. Optiz JM. Editorial comment: the Noonan syndrome. Am J Med Genet. 1985;21:515-8.
5. Allanson JE, Hall JG, Hughes HE, Preus M, Witt RD. Noonan syndrome: the changing phenotype. Am J Med Genet. 1985;21:507-14.
6. van der Burgt I. Noonan syndrome. Orphanet J Rare Dis. 2007;2:4.
7. Allanson JE. Noonan syndrome. J Med Genet. 1987;24:9-13.
8. Noonan JA. Noonan syndrome and related disorders: alterations in growth and puberty. Rev Endocr Metab Disord. 2006;7:251-5.
9. Ferreira LV , Souza SC, Montenegro LR, Malaquias AC, Arnhold IJ, Mendonca BB, et al. Analysis of PTPN11 gene in idiopathic short stature children and Noonan syndrome patients. Clin Endocrinol (Oxf). 2008.
10. Ranke MB, Heidemann P, Knupfer C, Enders H, Schmaltz AA, Bierich JR. Noonan syndrome: growth and clinical manifestations in 144 cases. Eur J Pediatr. 1988;148:220-7.
11. Romano AA, Blethen SL, Dana K, Noto RA. Growth hormone treatment in Noonan syndrome: the National Cooperative Growth Study experience. J Pediatr. 1996;128:S18-21.
12. Kirk JM, Betts PR, Butler GE, Donaldson MD, Dunger DB, Johnston DI, et al. Short stature in Noonan syndrome: response to growth hormone therapy. Arch Dis Child. 2001;84:440-3.
13. MacFarlane CE, Brown DC, Johnston LB, Patton MA, Dunger DB, Savage MO, et al. Growth hormone therapy and growth in children with Noonan's syndrome: results of 3 years' follow-up. J Clin Endocrinol Metab. 2001;86:1953-6.
14. Limal JM, Parfait B, Cabrol S, Bonnet D, Leheup B, Lyonnet S, et al. Noonan syndrome: relationships between genotype, growth, and growth factors. J Clin Endocrinol Metab. 2006;91:300-6.
15. Noonan JA, Raaijmakers R, Hall BD. Adult height in Noonan syndrome. Am J Med Genet. A 2003;123:68-71.
16. Noordam C, van der Burgt I, Sweep CG, Delemarre-van de Waal HA, Sengers RC, Otten BJ. Growth hormone (GH) secretion in children with Noonan syndrome: frequently abnormal without consequences for growth or response to GH treatment. Clin Endocrinol (Oxf). 2001;54:53-9.
17. Ahmed ML, Foot AB, Edge JA, Lamkin VA, Savage MO, Dunger DB. Noonan's syndrome: abnormalities of the growth hormone/IGF-I axis and the response to treatment with human biosynthetic growth hormone. Acta Paediatr Scand. 1991;80:446-50.
18. Binder G, Neuer K, Ranke MB, Wittekindt NE. PTPN11 mutations are associated with mild growth hormone resistance in individuals with Noonan syndrome. J Clin Endocrinol Metab. 2005;90:5377-81.
19. Ferreira LV , Souza SA, Arnhold IJ, Mendonca BB, Jorge AA. PTPN11 (protein tyrosine phosphatase, nonreceptor type 11) mutations and response to growth hormone therapy in children with Noonan syndrome. J Clin Endocrinol Metab. 2005;90:5156-60.
20. Sznajer Y, Keren B, Baumann C, Pereira S, Alberti C, Elion J, et al. The spectrum of cardiac anomalies in Noonan syndrome as a result of mutations in the PTPN11 gene. Pediatrics. 2007;119:e1325-31.
21. Shaw AC, Kalidas K, Crosby AH, Jeffery S, Patton MA. The natural history of Noonan syndrome: a long-term follow-up study. Arch Dis Child. 2007;92:128-32.
22. Duncan WJ, Fowler RS, Farkas LG, Ross RB, Wright AW, Bloom KR, et al. A comprehensive scoring system for evaluating Noonan syndrome. Am J Med Genet. 1981;10:37-50.
23. 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;53:187-91.
24. Jamieson CR, van der Burgt I, Brady AF, van Reen M, Elsawi MM, Hol F, et al. Mapping a gene for Noonan syndrome to the long arm of chromosome 12. Nat Genet. 1994;8:357-60.
25. Legius E, Schollen E, Matthijs G, Fryns JP. Fine mapping of Noonan/cardio-facio cutaneous syndrome in a large family. Eur J Hum Genet. 1998;6:32-7.
26. Zenker M, Buheitel G, Rauch R, Koenig R, Bosse K, Kress W, et al. Genotype-phenotype correlations in Noonan syndrome. J Pediatr. 2004;144:368-74.
27. Musante L, Kehl HG, Majewski F, Meinecke P, Schweiger S, Gillessen-Kaesbach G, et al. Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome. Eur J Hum Genet. 2003;11:201-6.
28. Sarkozy A, Conti E, Seripa D, Digilio MC, Grifone N, Tandoi C, et al. Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes. J Med Genet. 2003;40:704-8.
29. Bertola DR, Pereira AC, Albano LM, De Oliveira PS, Kim CA, Krieger JE. PTPN11 gene analysis in 74 Brazilian patients with Noonan syndrome or Noonan-like phenotype. Genet Test. 2006;10:186-91.
30. Tartaglia M, Kalidas K, Shaw A, Song X, Musat DL, van der Burgt I, et al. PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. Am J Hum Genet. 2002;70:1555-63.
31. 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;29:465-8.
32. Schubbert S, Shannon K, Bollag G. Hyperactive ras in developmental disorders and cancer. Nat Rev Cancer. 2007;7:295-308.
33. Tartaglia M, Martinelli S, Stella L, Bocchinfuso G, Flex E, Cordeddu V, et al. Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease. Am J Hum Genet. 2006;78:279-90.
34. Schubbert S, Bollag G, Shannon K. Deregulated ras signaling in developmental disorders: new tricks for an old dog. Curr Opin Genet Dev. 2007;17:15-22.
35. Pandit B, Sarkozy A, Pennacchio LA, Carta C, Oishi K, Martinelli S, et al. Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. Nat Genet. 2007;39:1007-12.
36. Razzaque MA, Nishizawa T, Komoike Y, Yagi H, Furutani M, Amo R, et al. Germline gain-of-function mutations in RAF1 cause Noonan syndrome. Nat Genet. 2007;39:1013-7.
37. Tartaglia M, Pennacchio LA, Zhao C, Yadav KK, Fodale V, Sarkozy A, et al. Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome. Nat Genet. 2007;39:75-9.
38. Zenker M, Horn D, Wieczorek D, Allanson J, Pauli S, van der Burgt I, et al. SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome. J Med Genet. 2007;44:651-6.
39. Roberts AE, Araki T, Swanson KD, Montgomery KT, Schiripo TA, Joshi VA, et al. Germline gain-of-function mutations in SOS1 cause Noonan syndrome. Nat Genet. 2007;39:70-4.
40. Nava C, Hanna N, Michot C, Pereira S, Pouvreau N, Niihori T, et al. Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome. J Med Genet. 2007;44:763-71.
41. Schubbert S, Zenker M, Rowe SL, Boll S, Klein C, Bollag G, et al. Germline KRAS mutations cause Noonan syndrome. Nat Genet. 2006;38:331-6.
42. Jorge AA, Marchisotti FG, Montenegro LR, Carvalho LR, Mendonca BB, Arnhold IJ. Growth hormone (GH) pharmacogenetics: influence of GH receptor exon 3 retention or deletion on first-year growth response and final height in patients with severe GH deficiency. J Clin Endocrinol Metab. 2006;91:1076-80.
43. Ranke MB, Lindberg A, Chatelain P, Wilton P, Cutfield W, Albertsson-Wikland K, et al. Prediction of long-term response to recombinant human growth hormone in Turner syndrome: development and validation of mathematical models. KIGS International Board. Kabi International Growth Study. J Clin Endocrinol Metab. 2000;85:4212-8.
44. Ranke MB, Lindberg A, Chatelain P, Wilton P, Cutfield W, Albertsson-Wikland K, et al. Derivation and validation of a mathematical model for predicting the response to exogenous recombinant human growth hormone (GH) in prepubertal children with idiopathic GH deficiency. KIGS International Board. Kabi Pharmacia International Growth Study. J Clin Endocrinol Metab. 1999;84:1174-83.
45. Osio D, Dahlgren J, Wikland KA, Westphal O. Improved final height with long-term growth hormone treatment in Noonan syndrome. Acta Paediatr. 2005;94:1232-7.
46. Cotterill AM, McKenna WJ, Brady AF, Sharland M, Elsawi M, Yamada M, et al. The short-term effects of growth hormone therapy on height velocity and cardiac ventricular wall thickness in children with Noonan's syndrome. J Clin Endocrinol Metab. 1996;81:2291-7.
47. GH Research Society. Critical evaluation of the safety of recombinant human growth hormone administration: statement from the Growth Hormone Research Society. J Clin Endocrinol Metab. 2001;86:1868-70.