Medical complications, clinical findings, and educational outcomes in adults with Noonan syndrome

American Journal of Medical Genetics, Part A

Volumn 158 A, Issue 12, 2012, Pages 3106-3111

  Smpokou, Patroula ^a,b   Tworog Dube, Erica ^c   Kucherlapati, Raju S ^a,c   Roberts, Amy E ^a,b  

^a HARVARD MEDICAL SCHOOL   (United States)

^b BOSTON CHILDREN S HOSPITAL   (United States)

^c LABORATORY FOR MOLECULAR MEDICINE   (United States)

Author keywords

BRAF; KRAS; MEK1; Noonan spectrum; Noonan syndrome; NRAS; PTPN11; RAF1; Ras MAPK pathway; SHOC2; SOS1

Indexed keywords

ADOLESCENT; ADULT; AGED; ANXIETY; ARNOLD CHIARI MALFORMATION; ARTHRALGIA; ARTICLE; BODY HEIGHT; BRAF GENE; CHRONIC PAIN; CLINICAL ARTICLE; CLINICAL FEATURE; COHORT ANALYSIS; COMORBIDITY; CONSTIPATION; CROSS-SECTIONAL STUDY; DEPRESSION; DISEASE ASSOCIATION; EDUCATIONAL STATUS; FEMALE; GASTROESOPHAGEAL REFLUX; GENE SEQUENCE; HUMAN; LYMPHEDEMA; MALE; MORBIDITY; NOONAN SYNDROME; ONSET AGE; OSTEOPENIA; OSTEOPOROSIS; PREVALENCE; PRIORITY JOURNAL; PTPN11 GENE; PULMONARY VALVE STENOSIS; SCOLIOSIS; SKIN BRUISING; SOS1 GENE;

EID: 84870249954     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35639     Document Type: Article

References (26)

1. Allanson J, Roberts A. 2011. Noonan syndrome. In: Pagon RA, Bird TD, Dolan CR, editors. GeneReviews [Internet]. Seattle, WA: University of Washington.
2. Beier A, Barrett R, Burke K, Kole B, Soo T. 2009. Leopard syndrome and Chiari type I malformation: A case report and review of the literature. Neurologist 15: 37-39.
3. Brunetti-Pierri N, Doty S, Hicks J, Phan K, Mendoza-Londono R, Blazo M, Tran A, Carter S, Lewis R, Plon S, Phillips W, O'Brian Smith E, Ellis K, Lee B. 2008. Generalized metabolic bone disease in neurofibromatosis type I. Mol Genet Metab 94: 105-111.
4. CDC. 2002. Prevalence of self-reported arthritis or chronic joint symptoms among adults-United States, 2001. MMWR 51: 948-950.
5. Colli R, Colombo P, Russo F, Sterpa A. 2001. Type 1 Arnold-Chiari malformation in a subject with Noonan syndrome. Pediatr Med Chir 23: 61-64.
6. Cordeddu V, Schiavi E, Pennachio L, Ma'ayan A, Sarkozy A, Fodale V, Cecchetti S, Cardinale A, Martin J, Schackwitz W, Lipzen A, Zampino G, Mazzanti L, Digilio M, Martinelli S, Flex E, Lepri F, Bartholdi D, Kutsche K, Ferrero G, Anichini C, Selicorni A, Rossi C, Tenconi R, Zenker M, Merlo D, Dallapicolla B, Iyengar R, Bazzicalupo P, Gelb B, Tartaglia M. 2009. Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair. Nat Genet 41: 1022-1026.
7. Elefteriou F, Kolanczyk M, Schindeler A, Viskochil D, Hock J, Schorry E, Crawford A, Friedman J, Little D, Peltonen J, Feldman D, Yu X, Armstrong L, Birch P, Kendler D, Mundlos S, Yang F-C, Agiostratidou G, Hunter-Schaedle K, Stevenson DA. 2009. Skeletal abnormalities in neurofibromatosis type 1: Approaches to therapeutic options. Am J Med Genet Part A 149A: 2327-2338.
8. Freburger J, Holmes G, Agans R, Jackman A, Darter J, Wallace A, Castel L, Kalsbeek W, Carey T. 2009. The rising prevalence of chronic low back pain. Arch Intern Med 169: 251-258.
9. Gripp K, Hopkins E, Doyle D, Dobyns W. 2010. High incidence of progressive postnatal cerebellar enlargement in Costello syndrome: Brain overgrowth associated with HRAS mutations as the likely cause of structural brain and spinal cord abnormalities. Am J Med Genet Part A 152A: 1161-1168.
10. Hepner A, Ahmadi-Kashani M, Movahed M. 2007. The prevalence of mitral valve prolapse in patients undergoing echocardiography for clinical reason. Int J Cardiol 123: 55-57.
11. Holder-Espinasse M, Winter R. 2003. Type 1 Arnold-Chiari malformation and Noonan syndrome. A new diagnostic feature? Clin Dysmorphol 12: 275.
12. Kessler R, Chiu W, Demler O, Walters E. 2005. Prevalence, severity, and comorbidity of twelve-month DSM-IV disorders in the National Comorbidity Survey Replication (NCS-R). Arch Gen Psychiatry 62: 617-627.
13. Massimi L, Dell a Pepa G, Tamburrini G, Di Rocco C. 2011. Sudden onset of Chiari malformation type I in previously asymptomatic patients. J Neurosurg Pediatr 8: 438-442.
14. Noonan J. 2005. Noonan syndrome. In: Goldstein S, Reynolds CR, editors. Handbook of neurodevelopmental and genetic disorders in adults. New York: Guilford Press. pp. 308-319.
15. Noonan J, Raaijmakers R. Hall B. 2003. Adult height in Noonan syndrome. Am J Med Genet Part A 123A: 68-71.
16. Pandit B, Sarkozy A, Pennachio L, Carta C, Oishi K, Martinelli S, Pogna E, Schackwitz W, Ustaszewska A, Landstrom A, Bos J, Ommen S, Esposito G, Lepri F, Faul C, Mundel P, Lopez Siguero J, Tenconi R, Selicorni A, Rossi C, Mazzanti L, Torrente I, Marino B, Digilio M, Zampino G, Ackerman M, Dallapicolla B, Tartaglia M, Gelb B. 2007. Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. Nat Genet 39: 1007-1012.
17. Peiris A, Ball M. 1982. Chiari (type 1) malformation and syringomyelia in a patient with Noonan syndrome. J Neurol Neurosurg Psychiatry 45: 753-754.
18. Reinker K, Stevenson D, Tsung A. 2011. Orthopaedic conditions in Ras/MAPK related disorders. J Pediatr Orthop 31: 599-605.
19. Roberts A, Araki T, Swanson K, Montgomery K, Schiripo T, Joshi V, Li L, Yassin Y, Tamburino A, Neel B, Kucherlapati R. 2007. Germline gain-of-function mutations in SOS1 cause Noonan syndrome. Nat Genet 39: 70-74.
20. Shaw A, Kalidas K, Crosby A, Jeffery S, Patton M. 2007. The natural history of Noonan syndrome: A long-term follow-up study. Arch Dis Child 92: 128-132.
21. Stevenson D, Schwartz E, Carey J, Viskochil D, Hanson H, Bauer S, Cindy Weng H-Y, Greene T, Reinker K, Swensen J, Chan R, Yang F-C, Senbanjo L, Yang Z, Mao R, Pasquali M. 2011. Bone resorption in syndromes of the Ras/MAPK pathway. Clin Genet 80: 566-573.
22. Tartaglia M, Mehler E, Goldberg R, Zampino G, Brunner H, Kremer H, Van der Burgt I, Crosby A, Ion A, Jeffery S, Kalidas K, Patton M, Kucherlapati R, Gelb B. 2001. Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. Nat Genet 29: 465-468.
23. Tartaglia M, Zampino G, Gelb B. 2010. Noonan syndrome: Clinical aspects and molecular pathogenesis. Mol Syndromol 1: 2-26.
24. Tubbs R, Rutledge S, Kosentka A, Bartolucci A, Oakes W. 2004. Chiari I malformation and neurofibromatosis type 1. Pediatr Neurol 30: 278-280.
25. Vitale S, Ellwein L, Cotch M, Ferris F 3rd, Sperduto R. 2008. Prevalence of refractive error in the United States, 1999-2004. Arch Ophthalmol 126: 1111-1119.
26. White S, Graham J, Kerr B, Gripp K, Weksberg R, Cytrynbaum C, Reeder J, Stewart F, Edwards M, Wilson M, Bankier A. 2005. The adult phenotype in Costello syndrome. Am J Med Genet Part A 136A: 128-135.