Lethal presentation of neurofibromatosis and Noonan syndrome

American Journal of Medical Genetics, Part A

Volumn 155, Issue 6, 2011, Pages 1360-1366

  Prada, Carlos E ^a   Zarate, Yuri A ^b   Hagenbuch, Sean ^a   Lovell, Anne ^a   Schorry, Elizabeth K ^a   Hopkin, Robert J ^a  

^a CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

^b GREENWOOD GENETIC CENTER   (United States)

Author keywords

Cardiomyopathy; Neurofibromatosis type 1; Neurofibromatosis Noonan syndrome; Noonan syndrome; PTPN11; Ras pathway

Indexed keywords

AMIODARONE; DIGOXIN; FLECAINIDE; NEUROFIBROMIN; PROPRANOLOL; PROTEIN TYROSINE PHOSPHATASE SHP 2; RAS PROTEIN; SOTALOL;

AIRWAY OBSTRUCTION; AORTA SURGERY; ARTICLE; ARTIFICIAL VENTILATION; AUTOSOMAL DOMINANT INHERITANCE; CARDIOMYOPATHY; CARDIOVASCULAR DISEASE; CARDIOVERSION; CASE REPORT; CHYLOTHORAX; CLINICAL EXAMINATION; CLINICAL FEATURE; COARSE FACE; DISEASE SEVERITY; ECHOCARDIOGRAPHY; FACE DYSMORPHIA; GENE; GENE MUTATION; GENETIC ANALYSIS; GENETIC DISORDER; HAPLOINSUFFICIENCY; HEART DEVELOPMENT; HEART FUNCTION; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; INFANT; INFANT MORTALITY; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NEUROFIBROMATOSIS; NEUROLOGIC DISEASE; NF1 GENE; NOONAN SYNDROME; ONCOGENE RAS; PRIORITY JOURNAL; PTPN11 GENE; PULMONARY VALVE STENOSIS; PULMONARY VALVULOPLASTY; SIGNAL TRANSDUCTION; SUPRAVENTRICULAR TACHYCARDIA;

FATAL OUTCOME; GENES, NEUROFIBROMATOSIS 1; HUMANS; INFANT; INFANT, NEWBORN; MALE; MUTATION, MISSENSE; NEUROFIBROMATOSES; NOONAN SYNDROME; PROTEIN TYROSINE PHOSPHATASE, NON-RECEPTOR TYPE 11;

EID: 79956191454     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33996     Document Type: Article

References (34)

1. Abuelo DN, Meryash DL. 1988. Neurofibromatosis with fully expressed Noonan syndrome. Am J Med Genet 29: 937-941.
2. Ahmadian MR, Kiel C, Stege P, Scheffzek K. 2003. Structural fingerprints of the Ras-GTPase activating proteins neurofibromin and p120GAP. J Mol Biol 329: 699-710.
3. Allanson JE, Hall JG, Van Allen MI. 1985. Noonan phenotype associated with neurofibromatosis. Am J Med Genet 21: 457-462.
4. 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: 992-1006.
5. Baralle D, Mattocks C, Kalidas K, Elmslie F, Whittaker J, Lees M, Ragge N, Patton MA, Winter RM, Ffrench-Constant C. 2003. Different mutations in the NF1 gene are associated with Neurofibromatosis-Noonan syndrome (NFNS). Am J Med Genet Part A 119A: 1-8.
6. Bertola DR, Pereira AC, Passetti F, de Oliveira PS, Messiaen L, Gelb BD, Kim CA, Krieger JE. 2005. Neurofibromatosis-Noonan syndrome: Molecular evidence of the concurrence of both disorders in a patient. Am J Med Genet Part A 136A: 242-245.
7. Borochowitz Z, Berant N, Dar H, Berant M. 1989. The neurofibromatosis-Noonan syndrome: Genetic heterogeneity versus clinical variability. Case report and review of the literature. Neurofibromatosis 2: 309-314.
8. Bourne HR, Sanders DA, McCormick F. 1991. The GTPase superfamily: Conserved structure and molecular mechanism. Nature 349: 117-127.
9. Buehning L, Curry CJ. 1995. Neurofibromatosis-Noonan syndrome. Pediatr Dermatol 12: 267-271.
10. Carey JC. 1998. Neurofibromatosis-Noonan syndrome. Am J Med Genet 75: 263-264.
11. Clerk A, Sugden PH. 2006. Ras: The stress and the strain. J Mol Cell Cardiol 41: 595-600.
12. De Luca A, Bottillo I, Sarkozy A, Carta C, Neri C, Bellacchio E, Schirinzi A, Conti E, Zampino G, Battaglia A. 2005. NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome. Am J Hum Genet 77: 1092-1101.
13. Faienza MF, Giordani L, Ferraris M, Bona G, Cavallo L. 2009. PTPN11 gene mutation and severe neonatal hypertrophic cardiomyopathy: What is the link? Pediatr Cardiol 30: 1012-1015.
14. Gelb BD, Tartaglia M. 2006. Noonan syndrome and related disorders: Dysregulated RAS-mitogen activated protein kinase signal transduction. Hum Mol Genet 15: R220-R226.
15. Huffmeier U, Zenker M, Hoyer J, Fahsold R, Rauch A. 2006. A variable combination of features of Noonan syndrome and neurofibromatosis type I are caused by mutations in the NF1 gene. Am J Med Genet Part A 140A: 2749-2756.
16. Jefferies JL, Belmont JW, Pignatelli R, Towbin JA, Craigen WJ. 2009. PTPN11 mutation associated with aortic dilation and hypertrophic cardiomyopathy in a pediatric patient with Noonan syndrome. Pediatr Cardiol 31: 114-116.
17. Maynard J, Krawczak M, Upadhyaya M. 1997. Characterization and significance of nine novel mutations in exon 16 of the neurofibromatosis type 1 (NF1) gene. Hum Genet 99: 674-676.
18. Meinecke P. 1987. Evidence that the "neurofibromatosis-Noonan syndrome" is a variant of von Recklinghausen neurofibromatosis. Am J Med Genet 26: 741-745.
19. Musante L, Kehl HG, Majewski F, Meinecke P, Schweiger S, Gillessen-Kaesbach G, Wieczorek D, Hinkel GK, Tinschert S, Hoeltzenbein M. 2003. 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 11: 201-206.
20. Nora JJ, Nora AH, Sinha AK, Spangler RD, Lubs HA. 1974. The Ullrich-Noonan syndrome (Turner phenotype). Am J Dis Child 127: 48-55.
21. Nystrom AM, Ekvall S, Allanson J, Edeby C, Elinder M, Holmstrom G, Bondeson ML, Anneren G. 2009. Noonan syndrome and neurofibromatosis type I in a family with a novel mutation in NF1. Clin Genet 76: 524-534.
22. Quattrin T, McPherson E, Putnam T. 1987. Vertical transmission of the neurofibromatosis/Noonan syndrome. Am J Med Genet 26: 645-649.
23. Sarkozy A, Conti E, Seripa D, Digilio MC, Grifone N, Tandoi C, Fazio VM, Di Ciommo V, Marino B, Pizzuti A, et al. 2003. Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes. J Med Genet 40: 704-708.
24. Shapira S, Barkan B, Friedman E, Kloog Y, Stein R. 2007. The tumor suppressor neurofibromin confers sensitivity to apoptosis by Ras-dependent and Ras-independent pathways. Cell Death Differ 14: 895-906.
25. Stern HJ, Saal HM, Lee JS, Fain PR, Goldgar DE, Rosenbaum KN, Barker DF. 1992. Clinical variability of type 1 neurofibromatosis: Is there a neurofibromatosis-Noonan syndrome? J Med Genet 29: 184-187.
26. Sznajer Y, Keren B, Baumann C, Pereira S, Alberti C, Elion J, Cave H, Verloes A. 2007. The spectrum of cardiac anomalies in Noonan syndrome as a result of mutations in the PTPN11 gene. Pediatrics 119: e1325-e1331.
27. Tartaglia M, Gelb BD. 2005. Germ-line and somatic PTPN11 mutations in human disease. Eur J Med Genet 48: 81-96.
28. Tartaglia M, Mehler EL, Goldberg R, Zampino G, Brunner HG, Kremer H, van der Burgt I, Crosby AH, Ion A, Jeffery S. 2001. Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. Nat Genet 29: 465-468.
29. Tartaglia M, Kalidas K, Shaw A, Song X, Musat DL, van der Burgt I, Brunner HG, Bertola DR, Crosby A, Ion A, Kucherlapati RS, Jeffery S, Patton MA, Gelb BD. 2002. PTPN11 mutations in Noonan syndrome: Molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. Am J Hum Genet 70: 1555-1563.
30. Tassabehji M, Strachan T, Sharland M, Colley A, Donnai D, Harris R, Thakker N. 1993. Tandem duplication within a neurofibromatosis type 1 (NF1) gene exon in a family with features of Watson syndrome and Noonan syndrome. Am J Hum Genet 53: 90-95.
31. Thiel C, Wilken M, Zenker M, Sticht H, Fahsold R, Gusek-Schneider GC, Rauch A. 2009. Independent NF1 and PTPN11 mutations in a family with neurofibromatosis-Noonan syndrome. Am J Med Genet Part A 149A: 1263-1267.
32. Watson GH. 1967. Pulmonary stenosis, cafe-au-lait spots, and dull intelligence. Arch Dis Child 42: 303-307.
33. Xu J, Ismat FA, Wang T, Yang J, Epstein JA. 2007. NF1 regulates a Ras-dependent vascular smooth muscle proliferative injury response. Circulation 116: 2148-2156.
34. Xu J, Ismat FA, Wang T, Lu MM, Antonucci N, Epstein JA. 2009. Cardiomyocyte-specific loss of neurofibromin promotes cardiac hypertrophy and dysfunction. Circ Res 105: 304-311.