PTPN11 gene analysis in 74 Brazilian patients with Noonan syndrome or Noonan-like phenotype

Genetic Testing

Volumn 10, Issue 3, 2006, Pages 186-191

  Bertola, Débora R ^a   Pereira, Alexandre C ^a   Albano, Lílian Maria José ^a   De Oliveira, Paulo S L ^a   Kim, Chong A ^a   Krieger, José Eduardo ^a  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; BRAZIL; CAUSAL ATTRIBUTION; COHORT ANALYSIS; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; DISEASE ASSOCIATION; FAMILIAL DISEASE; FEMALE; GENE; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC DISORDER; GENETIC SUSCEPTIBILITY; GENOTYPE PHENOTYPE CORRELATION; HEMATOLOGIC DISEASE; HUMAN; LEOPARD SYNDROME; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; MYELOPROLIFERATIVE DISORDER; NEUROFIBROMATOSIS; NOONAN LIKE SYNDROME; NOONAN SYNDROME; PEDIGREE ANALYSIS; PTPN11 GENE; STATISTICAL SIGNIFICANCE;

EID: 33845191047     PISSN: 10906576     EISSN: None     Source Type: Journal    
DOI: 10.1089/gte.2006.10.186     Document Type: Article

References (27)

1. Bader-Meunier B, Tchernia G, Mielot F, Fontaine JL, Thomas C, Lyonnet S, Lavergne JM, Dommergues JP (1997) Occurrence of myeloproliferative disorder in patients with Noonan syndrome. J Pediatr 130:885-889.
2. Baralle D, Mattocks C, Kalidas K, Elmslie F, Whittaker J, Lees M, Ragge N, Patton MA, Winter RM, French-Constant C (2003) Different mutations in the NF1 gene are associated with Neurofibromatosis-Noonan syndrome (NFNS). Am J Med Genet A 119:1-8.
3. Bertola DR, Pereira AC, de Oliveira PS, Kim CA, Krieger JE (2004) Clinical variability in a Noonan syndrome family with a new PTPN11 gene mutation. Am J Med Genet A 130:378-383.
4. 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 A 136:242-245.
5. De Luca A, Bottillo I, Sarkozy A, Carta C, Neri C, Bellacchio E, Schirinzi A, Conti E, Zampino G, Battaglia A, Majore S, Rinaldi MM, Carella M, Marino B, Pizzuti A, Digilio MC, Tartaglia M, Dallapiccola B (2005) NF1 gene mutations represent the major molecular event underlying neurofibromatosis- Noonan syndrome. Am J Hum Genet 77:1092-1101.
6. Digilio MC, Conti E, Sarkozy A, Mingarelli R, Dottorini T, Marino B, Pizzuti A, Dallapiccola B (2002) Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene. Am J Hum Genet 71:389-394.
7. Ion A, Tartaglia M, Song X, Kalidas K, van der Burgt I, Shaw AC, Ming JE, Zampino G, Zackai EH, Dean JC, Somer M, Parenti G, Crosby AH, Patton MA, Gelb BD, Jeffery S (2002) Absence of PTPN11 mutations in 28 cases of cardiofaciocutaneous (CFC) syndrome. Hum Genet 111:421-427.
8. Jongmans M, Sistermans EA, Rikken A, Nillesen WM, Tamminga R, Patton M, Maier EM, Tartaglia M, Noordam K, van der Burgt I (2005) Genotypic and phenotypic characterization of Noonan syndrome: new data and review of the literature. Am J Med Genet A134:165-170.
9. Kavamura MI, Pomponi MG, Zollino M, Lecce R, Murdolo M, Brunoni D, Alchorne MM, Opitz JM, Neri G (2003) PTPN11 mutations are not responsible for the cardiofaciocutaneous (CFC) syndrome. Eur J Hum Genet 11:64-68.
10. Kosaki K, Suzuki T, Muroya K, Hasegawa T, Sato S, Matsuo N, Kosaki R, Nagai T, Hasegawa Y, Ogata T (2002) PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) mutations in seven Japanese patients with Noonan syndrome. J Clin Endocrinol Metab 87:3529-3533.
11. Lee JS, Tartaglia M, GeLb BD, Fridrich K, Sachs S, Stratakis CA, Muenke M, Robey PG, Collins MT, Slavotinek A (2005) Phenotypic and genotypic characterisation of Noonan-like/multiple giant cell lesion syndrome. J Med Genet 42:e11.
12. Legius E, Schrander-Stumpel C, Schollen E, Pulles-Heintzberger C, Gewillig M, Fryns JP (2002) PTPN11 mutations in LEOPARD syndrome. J Med Genet 39: 571-574.
13. Loh ML, Vattikuti S, Schubbert S, Reynolds MG, Carlson E, Lieuw KH, Cheng JW, Lee CM, Stokoe D, Bonifas JM, Curtiss NP, Gotlib J, Meshinchi S, Le Beau MM, Emanuel PD, Shannon KM (2004) Mutations in PTPN11 implicate the SHP-2 phosphatase in leukemogenesis. Blood 103:2325-2331.
14. Maheshwari M, Belmont J, Fernbach S, Ho T, Molinari L, Yakub I, Yu F, Combes A, Towbin J, Craigen WJ, Gibbs R (2002) PTPN11 mutations in Noonan syndrome type I: Detection of recurrent mutations in exons 3 and 13. Hum Mutat 20:298-304.
15. Musante L, Kehl HG, Majewski F, Meinecke P, Schweiger S, Gillessen-Kaesbach G, Wieczorek D, Hinkel GK, Tinschert S, Hoeltzenbein M, Ropers HH, Kaischeuer VM (2002) 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.
16. Noonan JA (1994) Noonan syndrome. An update and review for the primary pediatrician. Clin Pediatr 33:548-555.
17. Sarkozy A, Conti E, Seripa D, Digilio MC, Grifone N, Tandoi C, Fazio VM, Di Ciommo V, Marino B, Pizzuti A, Dallapiccola B (2003) Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes. J Med Genet 40:704-708.
18. Schluter G, Steckel M, Schiffmann H, Harms K, Viereck V, Emons G, Burfeind P, Pauer HU (2005) Prenatal DNA diagnosis of Noonan syndrome in a fetus with massive hygroma colli, pleural effusion and ascites. Prenat Diagn 25:574-576.
19. Schubbert S, Zenker M, Rowe SL, Boll S, Klein C, Bollag G, van der Burgt I, Musante L, Kaischeuer V, Wehner LE, Nguyen H, West B, Zhang KY, Sistermans E, Rauch A, Niemeyer CM, Shannon K, Kratz CP (2006) Germline KRAS mutations cause Noonan syndrome. Nat Genet 38:331-336.
20. 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 (2001) Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. Nat Genet 29:465-468.
21. 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.
22. Tartaglia M, Cotter PD, Zampino G, Gelb BD, Rauen KA (2003a) Exclusion of PTPN11 mutations in Costello syndrome: further evidence for distinct genetic etiologies for Noonan, cardio-facio-cutaneous and Costello syndrome. Clin Genet 63:423-426.
23. Tartaglia M, Niemeyer CM, Fragale A, Song X, Buechner J, Jung A, Hahlen K, Hasle H, Licht JD, Gelb BD (2003b) Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia. Nat Genet 34:148-150.
24. van der Burgt I, Berends E, Lommen E, van Beersum S, Hamel B, Mariman E (1994) Clinical and molecular studies in a large dutch family with Noonan syndrome. Am J Med Genet 53:187-191.
25. Xiao W, Oefner PJ (2001) Denaturing high-performance liquid chromatography: A review. Hum Mutat 17:439-474.
26. Yoshida R, Hasegawa T, Hasegawa Y, Nagai T, Kinoshita E, Tanaka Y, Kanegane H, Ohyama K, Onishi T, Hanew K, Okuyama T, Horikawa R, Tanaka T, Ogata T (2004) Protein-tyrosine phosphatase, nonreceptor type 11 mutation analysis and clinical assessment in 45 patients with Noonan syndrome. J Clin Endocrinol Metab 89:3359-3364.
27. Zenker M, Buheitel G, Rauch R, Koenig R, Bosse K, Kress W, Tietze HU, Doerr HG, Hofbeck M, Singer H, Reis A, Rauch A (2004) Genotype-phenotype correlations in Noonan syndrome. J Pediatr 144:368-374.