Noonan syndrome

References

Key articles

Jorge AA, Malaquias AC, Arnhold IJ, et al. Noonan syndrome and related disorders: a review of clinical features and mutations in genes of the RAS/MAPK pathway. Horm Res. 2009;71(4):185-93.Full text  Abstract

Shaw AC, Kalidas K, Crosby AH, et al. The natural history of Noonan syndrome: a long-term follow-up study. Arch Dis Child. 2007 Feb;92(2):128-32.Full text  Abstract

Allanson JE. Noonan syndrome. J Med Genet. 1987 Jan;24(1):9-13.Full text  Abstract

Lee DA, Portnoy S, Hill P, et al. Psychological profile of children with Noonan syndrome. Dev Med Child Neurol. 2005 Jan;47(1):35-8. Abstract

Ishizawa A, Oho S, Dodo H, et al. Cardiovascular abnormalities in Noonan syndrome: the clinical findings and treatments. Acta Paediatr Jpn. 1996 Feb;38(1):84-90. Abstract

Romano AA, Allanson JE, Dahlgren J, et al. Noonan syndrome: clinical features, diagnosis, and management guidelines. Pediatrics. 2010 Oct;126(4):746-59. Abstract

Raaijmakers R, Noordam C, Karagiannis G, et al. Response to growth hormone treatment and final height in Noonan syndrome in a large cohort of patients in the KIGS database. J Pediatr Endocrinol Metab. 2008 Mar;21(3):267-73. Abstract

Reference articles

1. Jorge AA, Malaquias AC, Arnhold IJ, et al. Noonan syndrome and related disorders: a review of clinical features and mutations in genes of the RAS/MAPK pathway. Horm Res. 2009;71(4):185-93.Full text  Abstract

2. Kratz CP, Niemeyer CM, Castleberry RP, et al. The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease. Blood. 2005 Sep 15;106(6):2183-5.Full text  Abstract

3. Roberts AE, Araki T, Swanson KD, et al. Germline gain-of-function mutations in SOS1 cause Noonan syndrome. Nat Genet. 2007 Jan;39(1):70-4. Abstract

4. Tartaglia M, Pennacchio LA, Zhao C, et al. Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome. Nat Genet. 2007 Jan;39(1):75-9. Abstract

5. Pandit B, Sarkozy A, Pennacchio LA, et al. Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. Nat Genet. 2007 Aug;39(8):1007-12. Abstract

6. Razzaque MA, Nishizawa T, Komoike Y, et al. Germline gain-of-function mutations in RAF1 cause Noonan syndrome. Nat Genet. 2007 Aug;39(8):1013-7. Abstract

7. Schubbert S, Zenker M, Rowe SL, et al. Germline KRAS mutations cause Noonan syndrome. Nat Genet. 2006 Mar;38(3):331-6. Abstract

8. Cirstea IC, Kutsche K, Dvorsky R, et al. A restricted spectrum of NRAS mutations causes Noonan syndrome. Nat Genet. 2010 Jan;42(1):27-9.Full text  Abstract

9. Nyström AM, Ekvall S, Berglund E, et al. Noonan and cardio-facio-cutaneous syndromes: two clinically and genetically overlapping disorders. J Med Genet. 2008 Aug;45(8):500-6. Abstract

10. Sarkozy A, Carta C, Moretti S, et al. Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum. Hum Mutat. 2009 Apr;30(4):695-702.Full text  Abstract

11. Tartaglia M, Mehler EL, Goldberg R, et al. Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. Nat Genet. 2001 Dec;29(4):465-8. Abstract

12. Tartaglia M, Kalidas K, Shaw A, et al. PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. Am J Hum Genet. 2002 Jun;70(6):1555-63.Full text  Abstract

13. Mendez HM, Opitz JM. Noonan syndrome: a review. Am J Med Genet. 1985 Jul;21(3):493-506. Abstract

14. Yoshida R, Hasegawa T, Hasegawa Y, et al. Protein-tyrosine phosphatase, non-receptor type 11 mutation analysis and clinical assessment in 45 patients with Noonan syndrome. J Clin Endocrinol Metab. 2004 Jul;89(7):3359-64.Full text  Abstract

15. Limal JM, Parfait B, Cabrol S, et al. Noonan syndrome: relationships between genotype, growth, and growth factors. J Clin Endocrinol Metab. 2006 Jan;91(1):300-6.Full text  Abstract

16. Carta C, Pantaleoni F, Bocchinfuso G, et al. Germline missense mutations affecting KRAS isoform B are associated with a severe Noonan syndrome phenotype. Am J Hum Genet. 2006 Jul;79(1):129-35.Full text  Abstract

17. Zenker M, Lehmann K, Schulz AL, et al. Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations. J Med Genet. 2007 Feb;44(2):131-5.Full text  Abstract

18. Cordeddu V, Di Schiavi E, Pennacchio LA, et al. Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair. Nat Genet. 2009 Sep;41(9):1022-6.Full text  Abstract

19. Martinelli S, De Luca A, Stellacci E, et al. Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype. Am J Hum Genet. 2010 Aug 13;87(2):250-7.Full text  Abstract

20. Aoki Y, Niihori T, Banjo T, et al. Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome. Am J Hum Genet. 2013 Jul 11;93(1):173-80.Full text  Abstract

21. Chen PC, Yin J, Yu HW, et al. Next-generation sequencing identifies rare variants associated with Noonan syndrome. Proc Natl Acad Sci U S A. 2014 Aug 5;111(31):11473-8.Full text  Abstract

22. Yamamoto GL, Aguena M, Gos M, et al. Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome. J Med Genet. 2015 Jun;52(6):413-21.Full text  Abstract

23. Gripp KW, Aldinger KA, Bennett JT, et al. A novel rasopathy caused by recurrent de novo missense mutations in PPP1CB closely resembles Noonan syndrome with loose anagen hair. Am J Med Genet A. 2016 Sep;170(9):2237-47.Full text  Abstract

24. Clark EB. Mechanisms in the pathogenesis of congenital heart defects. Proc Greenwood Genet Cen. 1985;4:80-1.

25. Binder G, Neuer K, Ranke MB, et al. PTPN11 mutations are associated with mild growth hormone resistance in individuals with Noonan syndrome. J Clin Endocrinol Metab. 2005 Sep;90(9):5377-81.Full text  Abstract

26. Stofega MR, Herrington J, Billestrup N, et al. Mutation of the SHP-2 binding site in growth hormone (GH) receptor prolongs GH-promoted tyrosyl phosphorylation of GH receptor, JAK2, and STAT5B. Mol Endocrinol. 2000 Sep;14(9):1338-50.Full text  Abstract

27. Quaio CR, Carvalho JF, da Silva CA, et al. Autoimmune disease and multiple autoantibodies in 42 patients with RASopathies. Am J Med Genet A. 2012 May;158A(5):1077-82. Abstract

28. Tartaglia M, Cordeddu V, Chang H, et al. Paternal germline origin and sex-ratio distortion in transmission of PTPN11 mutations in Noonan syndrome. Am J Hum Genet. 2004 Sep;75(3):492-7.Full text  Abstract

29. Sharland M, Burch M, McKenna WM, et al. A clinical study of Noonan syndrome. Arch Dis Child. 1992 Feb;67(2):178-83.Full text  Abstract

30. Shaw AC, Kalidas K, Crosby AH, et al. The natural history of Noonan syndrome: a long-term follow-up study. Arch Dis Child. 2007 Feb;92(2):128-32.Full text  Abstract

31. Shah N, Rodriguez M, St Louis D, et al. Feeding difficulties and foregut dysmotility in Noonan's syndrome. Arch Dis Child. 1999 Jul;81(1):28-31.Full text  Abstract

32. Witt DR, Keena BA, Hall JG, et al. Growth curves for height in Noonan syndrome. Clin Genet. 1986 Sep;30(3):150-3. Abstract

33. Elsawi MM, Pryor JP, Klufio G, et al. Genital tract function in men with Noonan syndrome. J Med Genet. 1994 Jun;31(6):468-70.Full text  Abstract

34. Allanson JE. Noonan syndrome. J Med Genet. 1987 Jan;24(1):9-13.Full text  Abstract

35. Lee DA, Portnoy S, Hill P, et al. Psychological profile of children with Noonan syndrome. Dev Med Child Neurol. 2005 Jan;47(1):35-8. Abstract

36. Sarimski K. Developmental and behavioural phenotype in Noonan syndrome? Genet Couns. 2000;11(4):383-90. Abstract

37. Pierpont EI, Weismer SE, Roberts AE, et al. The language phenotype of children and adolescents with Noonan syndrome. J Speech Lang Hear Res. 2010 Aug;53(4):917-32.Full text  Abstract

38. Alfieri P, Cesarini L, De Rose P, et al. Visual processing in Noonan syndrome: dorsal and ventral stream sensitivity. Am J Med Genet A. 2011 Oct;155A(10):2459-64. Abstract

39. Wingbermühle E, Roelofs RL, van der Burgt I, et al. Cognitive functioning of adults with Noonan syndrome: a case-control study. Genes Brain Behav. 2012 Oct;11(7):785-93.Full text  Abstract

40. Singer ST, Hurst D, Addiego JE Jr. Bleeding disorders in Noonan syndrome: three case reports and review of the literature. J Pediatr Hematol Oncol. 1997 Mar-Apr;19(2):130-4. Abstract

41. Sharland M, Patton MA, Talbot S, et al. Coagulation-factor deficiencies and abnormal bleeding in Noonan's syndrome. Lancet. 1992 Jan 4;339(8784):19-21. Abstract

42. van der Burgt I. Noonan syndrome. Orphanet J Rare Dis. 2007 Jan 14;2:4.Full text  Abstract

43. van Trier DC, van der Burgt I, Draaijer RW, et al. Ocular findings in Noonan syndrome: a retrospective cohort study of 105 patients. Eur J Pediatr. 2018 Aug;177(8):1293-98.Full text  Abstract

44. Stevenson DA, Allen S, Tidyman WE, et al. Peripheral muscle weakness in RASopathies. Muscle Nerve. 2012 Sep;46(3):394-9. Abstract

45. Pierini DO, Pierini AM. Keratosis pilaris atrophicans faciei (ulerythema ophryogenes): a cutaneous marker in the Noonan syndrome. Br J Dermatol. 1979 Apr;100(4):409-16. Abstract

46. Achiron R, Heggesh J, Grisaru D, et al. Noonan syndrome: a cryptic condition in early gestation. Am J Med Genet. 2000 May 29;92(3):159-65. Abstract

47. Benacerraf BR, Greene MF, Holmes LB. The prenatal sonographic features of Noonan's syndrome. J Ultrasound Med. 1989 Feb;8(2):59-63. Abstract

48. Houweling AC, de Mooij YM, van der Burgt I, et al. Prenatal detection of Noonan syndrome by mutation analysis of the PTPN11 and the KRAS genes. Prenat Diagn. 2010 Mar;30(3):284-6. Abstract

49. Bawle EV, Black V. Nonimmune hydrops fetalis in Noonan's syndrome. Am J Dis Child. 1986 Aug;140(8):758-60. Abstract

50. George CD, Patton MA, El Sawi M, et al. Abdominal ultrasound in Noonan syndrome: a study of 44 patients. Pediatr Radiol. 1993;23(4):316-8. Abstract

51. Duncan WJ, Fowler RS, Farkas LG, et al. A comprehensive scoring system for evaluating Noonan syndrome. Am J Med Genet. 1981;10(1):37-50. Abstract

52. Derbent M, Oncel Y, Tokel K, et al. Clinical and hematologic findings in Noonan syndrome patients with PTPN11 gene mutations. Am J Med Genet A. 2010 Nov;152A(11):2768-74. Abstract

53. Briggs BJ, Dickerman JD. Bleeding disorders in Noonan syndrome. Pediatr Blood Cancer. 2012 Feb;58(2):167-72. Abstract

54. Marcus KA, Sweep CG, van der Burgt I, et al. Impaired Sertoli cell function in males diagnosed with Noonan syndrome. J Pediatr Endocrinol Metab. 2008 Nov;21(11):1079-84. Abstract

55. Burch M, Sharland M, Shinebourne E, et al. Cardiologic abnormalities in Noonan syndrome: phenotypic diagnosis and echocardiographic assessment of 118 patients. J Am Coll Cardiol. 1993 Oct;22(4):1189-92.Full text  Abstract

56. Ishizawa A, Oho S, Dodo H, et al. Cardiovascular abnormalities in Noonan syndrome: the clinical findings and treatments. Acta Paediatr Jpn. 1996 Feb;38(1):84-90. Abstract

57. Noonan JA, O'Connor W. Noonan syndrome: a clinical description emphasizing the cardiac findings. Acta Paediatr Jpn. 1996;38:76-83. Abstract

58. Lee KA, Williams B, Roza K, et al. PTPN11 analysis for the prenatal diagnosis of Noonan syndrome in fetuses with abnormal ultrasound findings. Clin Genet. 2009 Feb;75(2):190-4. Abstract

59. Roelofs RL, Janssen N, Wingbermühle E, et al. Intellectual development in Noonan syndrome: a longitudinal study. Brain Behav. 2016 Jul;6(7):e00479.Full text  Abstract

60. Romano AA, Allanson JE, Dahlgren J, et al. Noonan syndrome: clinical features, diagnosis, and management guidelines. Pediatrics. 2010 Oct;126(4):746-59. Abstract

61. Coppin BD, Temple IK. Multiple lentigines syndrome (LEOPARD syndrome or progressive cardiomyopathic lentiginosis). J Med Genet. 1997 Jul;34(7):582-6. Abstract

62. Digilio MC, Conti E, Sarkozy A, et al. Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene. Am J Hum Genet. 2002 Aug;71(2):389-94.Full text  Abstract

63. Roberts A, Allanson J, Jadico SK, et al. The cardiofaciocutaneous syndrome. J Med Genet. 2006 Nov;43(11):833-42.Full text  Abstract

64. Gripp KW, Lin AE, Stabley DL, et al. HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation. Am J Med Genet A. 2006 Jan 1;140(1):1-7. Abstract

65. Ritzén EM, Bergh A, Bjerknes R, et al. Nordic consensus on treatment of undescended testes. Acta Paediatr. 2007 May;96(5):638-43.Full text  Abstract

66. Romano AA. Growth and Growth Hormone Treatment in Noonan Syndrome. Pediatr Endocrinol Rev. 2019 May;16(suppl 2):459-464.Full text  Abstract

67. Raaijmakers R, Noordam C, Karagiannis G, et al. Response to growth hormone treatment and final height in Noonan syndrome in a large cohort of patients in the KIGS database. J Pediatr Endocrinol Metab. 2008 Mar;21(3):267-73. Abstract

68. Osio D, Dahlgren J, Wikland KA, et al. Improved final height with long-term growth hormone treatment in Noonan syndrome. Acta Paediatr. 2005 Sep;94(9):1232-7. Abstract

69. Romano AA, Dana K, Bakker B, et al. Growth response, near-adult height, and patterns of growth and puberty in patients with Noonan syndrome treated with growth hormone. J Clin Endocrinol Metab. 2009 Jul;94(7):2338-44. Abstract

70. Ferreira LV, Souza SA, Arnhold IJ, et al. PTPN11 (protein tyrosine phosphatase, nonreceptor type 11) mutations and response to growth hormone therapy in children with Noonan syndrome. J Clin Endocrinol Metab. 2005 Sep;90(9):5156-60.Full text  Abstract

71. Jeong I, Kang E, Cho JH, et al. Long-term efficacy of recombinant human growth hormone therapy in short-statured patients with Noonan syndrome. Ann Pediatr Endocrinol Metab. 2016 Mar;21(1):26-30.Full text  Abstract

72. Choi JH, Lee BH, Jung CW, et al. Response to growth hormone therapy in children with Noonan syndrome: correlation with or without PTPN11 gene mutation. Horm Res Paediatr. 2012;77(6):388-93.Full text  Abstract

73. Malaquias AC, Noronha RM, Souza TTO, et al. Impact of Growth Hormone Therapy on Adult Height in Patients with PTPN11 Mutations Related to Noonan Syndrome. Horm Res Paediatr. 2019;91(4):252-261.Full text  Abstract

74. Noordam C, Peer PG, Francois I, et al. Long-term GH treatment improves adult height in children with Noonan syndrome with and without mutations in protein tyrosine phosphatase, non-receptor-type 11. Eur J Endocrinol. 2008 Sep;159(3):203-8.Full text  Abstract

75. Seok EM, Park HK, Rho JG, et al. Effectiveness of growth hormone therapy in children with Noonan syndrome. Ann Pediatr Endocrinol Metab. 2020 Sep;25(3):182-186.Full text  Abstract

76. Colquitt JL, Noonan JA. Cardiac findings in Noonan syndrome on long-term follow-up. Congenit Heart Dis. 2014 Mar-Apr;9(2):144-50.Full text  Abstract

77. Kaltenecker E, Schleihauf J, Meierhofer C, et al. Long-term outcomes of childhood onset Noonan compared to sarcomere hypertrophic cardiomyopathy. Cardiovasc Diagn Ther. 2019 Oct;9(suppl 2):S299-S309.Full text  Abstract

78. Cremers CW, van der Burgt CJ. Hearing loss in Noonan syndrome. Int J Pediatr Otorhinolaryngol. 1992 Jan;23(1):81-4. Abstract

79. Jongmans MC, van der Burgt I, Hoogerbrugge PM, et al. Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation. Eur J Hum Genet. 2011 Aug;19(8):870-4.Full text  Abstract

80. Kratz CP, Rapisuwon S, Reed H, et al. Cancer in Noonan, Costello, Cardiofaciocutaneous and LEOPARD syndromes. Am J Med Genet C Semin Med Genet. 2011 May 15;157C(2):83-9. Abstract

81. Jongmans MC, Hoogerbrugge PM, Hilkens L, et al. Noonan syndrome, the SOS1 gene and embryonal rhabdomyosarcoma. Genes Chromosomes Cancer. 2010 Jul;49(7):635-41. Abstract

82. Villani A, Greer MC, Kalish JM, et al. Recommendations for Cancer Surveillance in Individuals with RASopathies and Other Rare Genetic Conditions with Increased Cancer Risk. Clin Cancer Res. 2017 Jun 15;23(12):e83-e90.Full text  Abstract

83. Neumann TE, Allanson J, Kavamura I, et al. Multiple giant cell lesions in patients with Noonan and cardio-facio-cutaneous syndrome. Eur J Hum Genet. 2009 Apr;17(4):420-5.Full text  Abstract

84. Allanson JE. Noonan syndrome. In: Cassidy SB, Allanson JE, eds. Management of genetic syndromes. 3rd ed. New York, NY: Wiley-Blackwell; 2010:569-86.

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