Does the rare A172G mutation of PTPN11 gene convey a mild Noonan syndrome phenotype?

Hormone Research

Volumn 66, Issue 3, 2006, Pages 124-131

  Kitsiou Tzeli, Sophia ^a   Papadopoulou, Anna ^b   Kanaka Gantenbein, Christina ^a   Fretzayas, Andreas ^b   Daskalopoulos, Dimitris ^a   Kanavakis, Emmanuel ^a   Nicolaidou, Polyxeni ^b  

^a UNIVERSITY OF ATHENS   (Greece)

^b IASO GENERAL HOSPITAL   (Greece)

Author keywords

A172G mutation; Noonan syndrome; PTPN11 gene; Short stature

Indexed keywords

ALANINE; ASPARAGINE; ASPARTIC ACID; GLYCINE;

AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; CLINICAL FEATURE; CONGENITAL HEART DISEASE; CORRELATION ANALYSIS; CRYPTORCHISM; DIAGNOSTIC VALUE; DISEASE CLASSIFICATION; DISEASE SEVERITY; EXON; FACE DYSMORPHIA; GENE; GENE IDENTIFICATION; GENE MUTATION; GENETIC DISORDER; GENOTYPE; HUMAN; MALE; MISSENSE MUTATION; MOLECULAR MODEL; NOONAN SYNDROME; PHENOTYPE; POINT MUTATION; PREDICTION; PRIORITY JOURNAL; PSYCHOMOTOR RETARDATION; PTPN11 GENE; RARE DISEASE; SCHOOL CHILD; SHORT STATURE;

ADULT; AMINO ACID SUBSTITUTION; CHILD; EXONS; FEMALE; GROWTH DISORDERS; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; MALE; MIDDLE AGED; NOONAN SYNDROME; PHENOTYPE; POINT MUTATION; PROTEIN-TYROSINE-PHOSPHATASE;

EID: 33747034443     PISSN: 03010163     EISSN: None     Source Type: Journal    
DOI: 10.1159/000094145     Document Type: Article

References (38)

1. McKusick VA: Mendelian Inheritance in Man. A Catalog of Human Genes and Genetic Disorders. ed 12. Baltimore and London, The Johns Hopkins University Press, 1998, OMIM # 176876 (http://www.nlm.nih.gov/omim/).
2. Allanson JE: Noonan syndrome; in Cassidy SB, Allanson JE (eds): Management of Genetic Syndromes. ed 2. Wiley Liss, Inc, 2005, p 385.
3. Jamieson CR, van der Burgt I, Brady AF, van Reen M, Elsawi MM, Hol F, Jeffery S, Patton MA, Mariman E: Mapping a gene for Noonan syndrome to the long arm of chromosome 12. Nat Genet 1994;8:357-360.
4. Brady AF, Jamieson CR, van der Burgt I, Crosby A, van Reen M, Kremer H, Mariman E, Patton MA, Jeffery S: Further delineation of the critical region for Noonan syndrome on the long arm of chromosome 12. Eur J Hum Genet 1997;5:336-337.
5. Legius E, Schollen E, Matthijs G, Fryns J-P: Fine mapping of Noonan/cardio-facial-cutaneous syndrome in a large family. Eur J Hum Genet 1998;6:32-37.
6. 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: Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. Nat Genet 2001;29:465-468.
7. 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: PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation and phenotypic heterogeneity. Am J Med Genet 2002;70:1555-1563.
8. Kosaki K, Suzuki T, Muroya K, Hasegawa T, Sato S, Matsuo N, Kosaki R, Nagai T, Hasegawa Y, Ogata T: PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) mutations in seven Japanese patients with Noonan syndrome. J Clin Endocrinol Metab 2002;87:3529-3533.
9. Sarkozy A, Conti E, Seripa D, Digilio MC, Grifone N, Tandoi C, Fazio VM, Di Ciommo V, Marino B, Pizzuti A, Dallapiccola B: Correlation between PTPN 11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes. J Med Genet 2003;40:704-708.
10. 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: Protein-tyrosine phosphatase, nonreceptor type 11 mutation analysis and clinical assessment in 45 patients with Noonan syndrome. J Clin Endocrinol Metab 2004;89:3359-3364.
11. Zenker M, Buheitel G, Rauch R, Koening R, Bosse K, Kress W, Tietze HU, Doerr HG, Hofbeck M, Singer H, Reis A, Rauch A: Genotype-phenotype correlations in Noonan syndrome. J Pediatr 2004;144:368-374.
12. Jongmans M, Sistermans EA, Rikken A, Nillesen WM, Tamminga R, Patton M, Maier EM, Tartaglia M, Noordam K, van der Burgt I: Genotypic and phenotypic characterization of Noonan syndrome: new data and review of the literature. Am J Med Genet 2005;134:165-170.
13. Schubbert S, Zenker M, Rowe S, Boll S, Klein C, Bollag G, van der Burgt I, Musante L, Kaischeuer V, Wehner L, Nguyen H, West B, Zhang K, Sistermans E, Rauch A, Niemeyer C, Shannon K, Kratz C: Germline KRAS mutations cause Noonan syndrome. Nat Genet 2006;38:331-336.
14. Musante L, Kehl HG, Majewski F, Meinecke P, Schweiger S, Gillessen-Kaesbach G, Wieczorek D, Kinkel GK, Tinschert S, Hoeltzenbein M, Roperts HH, Kaischeuer VM: 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 2002;11:201-206.
15. Maheshwari M, Belmont J, Fernbach S, Ho T, Molinari L, Yakub I, Yu F, Combes A, Towbin J, Craigen WJ, Gibbs R: PTPN11 mutations in Noonan syndrome type I: detection of recurrent mutations in exons 3 and 13. Hum Mutat 2002;20:298-304.
16. Tartaglia M, Niemeyer CM, Shannon KM, Loh ML: SHP-2 and myeloid malignancies. Curr Opin Hematol 2004;11:44-50.
17. Giovannini L, Cave H, Ferrero-Vacher C, Boutte P, Sirvent N: A new PTPN11 mutation in juvenile myelomonocytic leukaemia associated with Noonan syndrome. Acta Paediatr 2005;94:636-637.
18. Greulich WW, Pyle SI: Radiographic Atlas of Skeletal Development of the Hand and Wrist. ed 2. Stanford, California, Stanford University Press, 1959.
19. Binder G, Neuer K, Ranke MB, Wittekindt NE: PTPN11 mutations are associated with mild growth resistance in individuals with Noonan syndrome. J Clin Endocrinol Metab 2005;90:5377-5381.
20. Tartaglia M, Niemeyer CM, Fragale A, Song X, Buechner J, Jung A, Hahlen K, Hasle H, Licht JD, Gelb BD: Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia. Nat Genet 2003;34:148-150.
21. Schollen E, Matthijs G, Gewillig M, Fryns JP, Legius E: PTPN11 mutation in a large family with Noonan syndrome and dizygous twinning. Eur J Hum Genet 2003;11:85-88.
22. Digilio MC, Conti E, Sarkozy A, Mingarelli R, Dottorini T, Marino B, Pizzuti A, Dallapiccola A: Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene. Am J Hum Genet 2002;71:389-394.
23. Bertola DR, Pereira AC, de Oliveira PS, Kim CA, Krieger JE: Clinical variability in a Noonan syndrome family with a new PTPN11 gene mutation. Am J Med Genet 2004;130:378-383.
24. Sarkozy A, Obregon MG, Conti E, Esposito G, Mingarelli R, Pizzuti A, Dallapiccola B: A novel PTPN11 gene mutation bridges Noonan syndrome, multiple lengitines/LEOPARD syndrome and Noonan-like/multiple giant cell lesion syndrome. Eur J Hum Genet 2004;12:1069-1072.
25. Kondoh T, Ishii E, Aoki Y, Shimizu T, Zaitsu M, Matsubara Y, Moriuchi H: Noonan syndrome with leukaemoid reaction and over-production of catecholamines: a case report. Eur J Pediatr 2003;162:548-549.
26. Takahashi K, Kogaki S, Kurotobi S, Nasuno S, Ohta M, Okabe H, Wada K, Sakai N, Taniike M, Ozono K: A novel mutation in the PTPN11 gene in a patient with Noonan syndrome and rapidly progressive hypertrophic cardiomyopathy. Eur J Pediatr 2005;164:497-500.
27. Kalidas K, Shaw AC, Crosby AH, Newbury-Ecob R, Greenhalgh L, Temple IK, Law C, Patel A, Patton AM, Jeffery S: Genetic heterogeneity in LEOPARD syndrome: two familles with no mutations in PTPN11. J Hum Genet 2005;50:21-25.
28. Lee WH, Raas-Rotschild A, Miteva MA, Bolasco G, Rein A, Gillis D, Vidaud D, Vidaud M, Villoutrerx BO, Parfait B: Noonan syndrome type I with PTPN11 3bp deletion: structure-function implications. Proteins 2005;58:7-13.
29. Marino B, Digilio MC, Toscano A: Congenital heart diseases in children with Noonan syndrome: an expanded cardiac spectrum with high prevalence of atrioventricular canal. J Pediatr 1999;135:703-706.
30. Jongmans M, Otten B, Noordam K, van der Burgt I: Genetics and variation in phenotype in Noonan syndrome. Horm Res 2004;62(suppl 3):56-59.
31. Limal JM, Parfait B, Cabrol S, Bonnet D, Leheup B, Lyonnet S, Vidaud M, Le Bouc Y: Noonan syndrome: relationships between genotype, growth and growth factors. J Clin Endocrinol Metab 2006;91:300-306.
32. Kelnar CJH: Growth hormone therapy for syndromic disorders. Clin Endocrinol 2003;59:12-21.
33. Saenger P: Editorial: Noonan syndrome - certitude replaces conjecture. J Clin Endocrinol Metab 2002;87:3527-3528.
34. Ogawa M, Moriya N, Ikeda H, Tanae A, Tanaka T, Ohyama K, Mori O, Yazawa T, Fujita K, Seino Y, Kubo T, Tanaka H, Nishi Y, Yoshimoto M: Clinical evaluation of recombinant growth hormone in Noonan syndrome. Endocr J 2004;51:61-68.
35. Kirk JMW, Betts PR, Butler GE, Donaldson MDC, Dunger DB, Johnston DI, Kelnar CJH, Price DA, Wilton P; the UK KIGS Executive Group on behalf of the participating centers: Short stature in Noonan syndrome: response to growth hormone therapy. Arch Dis Child 2001;84:440-443.
36. Noonan JA, Raaijmakers R, Hall BD: Adult height in Noonan syndrome. Am J Med Genet 2003;123:68-71.
37. 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;90:5156-5160.
38. Kelnar CJ: Growth hormone therapy in Noonan syndrome. Horm Res 2000;53(suppl 1):77-81.