Early fetal death associated with compound heterozygosity for Noonan syndrome-causative PTPN11 mutations [3]

American Journal of Medical Genetics, Part A

Volumn 143, Issue 11, 2007, Pages 1249-1252

  Becker, Kristin ^a,b   Hughes, Helen ^a,b   Howard, Karol ^a   Armstrong, Maggie ^a   Roberts, Devender ^c   Lazda, Edgar J ^b   Short, John P ^d   Shaw, Adam ^d   Patton, Michael A ^d   Tartaglia, Marco ^e  

^a GLAN CLWYD HOSPITAL   (United Kingdom)

^b UNIVERSITY HOSPITAL OF WALES   (United Kingdom)

^c LIVERPOOL WOMEN S HOSPITAL   (United Kingdom)

^d ST GEORGE'S UNIVERSITY OF LONDON   (United Kingdom)

^e ISTITUTO SUPERIORE DI SANITÀ   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

CASE REPORT; CYSTIC LYMPHANGIOMA; FETUS; FETUS DEATH; FETUS HYDROPS; GENE; GENE MUTATION; GENETIC COUNSELING; HETEROZYGOSITY; HUMAN; LETTER; MATERNAL DISEASE; MISSENSE MUTATION; NOONAN SYNDROME; PRIORITY JOURNAL; PTPN11 GENE;

ADULT; CHILD, PRESCHOOL; FEMALE; FETAL DEATH; FETUS; GESTATIONAL AGE; HETEROZYGOTE; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; MALE; MUTATION; NOONAN SYNDROME; PREGNANCY; PROTEIN-TYROSINE-PHOSPHATASE; ULTRASONOGRAPHY, PRENATAL;

EID: 34249907007     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31738     Document Type: Letter

References (35)

1. Achiron R, Heggesh J, Grisaru D, Goldman B, Lipitz S, Yagel S, Frydman M. 2000. Noonan syndrome: A cryptic condition in early gestation. Am J Med Genet 92:159-165.
2. Araki T, Mohi MG, Ismat FA, Bronson RT, Williams IR, Kutok JL, Yang W, Pao LI, Gilliland DG, Epstein JA, Neel BG. 2004. Mouse model of Noonan syndrome reveals cell type- and gene dosage-dependent effects of Ptpn11 mutation. Nat Med 10:849-857.
3. Benacerraf BR, Greene MF, Holmes LB. 1989. The prenatal sonographic features of Noonan's syndrome. J Ultrasound Med 8:59-63.
4. Carta C, Pantaleoni F, Bocchinfuso G, Stella L, Isabella Vasta I, Anna Sarkozy A, Digilio C, Palleschi A, Pizzuti A, Grammatico P, Zampino G, Dallapiccola B, Gelb BD, Tartaglia M. 2006. Germline missense mutations affecting KRAS isoform B are associated with a severe Noonan syndrome phenotype. Am J Hum Genet 79:129-135.
5. Choong K, Freedman MH, Chitayat D, Kelly EN, Taylor G, Zipursky A. 1999. Juvenile myelomonocytic leukemia and Noonan syndrome. J Pediatr Hematol Oncol 21:523-327.
6. Gibson W, Trevenen C, Giuffre M, Leung AK. 2005. Noonan syndrome in a premature infant with hypertrophic cardiomyopathy and death in infancy. J Natl Med Assoc 97:805-807.
7. Hof P, Pluskey S, Dhe-Paganon S, Eck MJ, Shoelson SE. 1998. Crystal structure of the tyrosine phosphatase SHP-2. Cell 92: 441-450.
8. Jamieson CR, van der Burgt I, Brady AF, van Reen M, Elsawi MM, Hol F, Jeffery S, Patton MA, Mariman E. 1994. Mapping a gene for Noonan syndrome to the long arm of chromosome 12. Nat Genet 8:357-360.
9. Jones JR, Wood TC, Whalen MA, Haddock-Bolt C, Seaver LH, Schroer RJ, Rogers RC, Everman DE, Friez MJ. 2003. PTPN11 mutations in Noonan syndrome and hydrops fetalis. Am J Hum Genet 73:S579.
10. 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 Part A 134A:165-170.
11. Katz VL, Kort B, Watson WJ. 1993. Progression of nonimmune hydrops in a fetus with Noonan syndrome. Am J Perinatol 10:417-418.
12. Keilhack H, David FS, McGregor M, Cantley LC, Neel BG. 2005. Diverse biochemical properties of Shp2 mutants: Implications for disease phenotypes. J Biol Chem 280:30984-30993.
13. Kurose A, Oyama K, Murakami Y, Ohyama K, Segawa I, Sawai T. 2000. Dilated cardiomyopathy in Noonan's syndrome: A first autopsy case. Hum Pathol 31:764-767.
14. Maheshwari M, Belmont I, 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. Mendez HM, Opitz JM. 1985. Noonan syndrome: A review. Am J Med Genet 21:493-506.
16. Musante L, Kehl HG, Majewski F, Meinecke P, Schweiger S, Gillessen-Kaesbach G, Wieczorek D, Hinkel GK, Tinschert S, Hoeltzenbein M, Ropers HH, Kalscheuer VM. 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.
17. Neel BG, Gu H, Pao L. 2003. The 'Shp'ing news: SH2 domain-containing tyrosine phosphatases in cell signaling. Trends Biochem Sci 28:284-293.
18. Nisbet DL, Griffin DR, Chitty LS. 1999. Prenatal features of Noonan syndrome. Prenat Diagn 19:642-647.
19. Noonan JA. 1994. Noonan syndrome. An update and review for the primary pediatrician. Clin Pediatr (Phila) 33:548-555.
20. Pauli RM, Conroy MM, Langer LO Jr, McLone DG, Naidich T, Franciosi R, Ratner IM, Copps SC. 1983. Homozygous achondroplasia with survival beyond infancy. Am J Med Genet 16:459-473.
21. Roberts AE, Araki T, Swanson KD, Montgomery KT, Schiripo TA, Joshi VA, Li L, Yassin Y, Tamburino AM, Neel BG, Kucherlapati RS. 2007. Germline gain-of-function mutations in SOS1 cause Noonan syndrome. Nat Genet 39:70-74.
22. Salbert BA, Lowe A, Connuck D, Towbin J, Colan S, Cox G, Sleeper L, Cadregari E, Clunie S, Messere J, Lipshultz S. 2003. Noonan syndrome and cardiomyopathy: Outcome indicators. Am J Hum Genet 73:S269.
23. 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.
24. 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.
25. Schubbert S, Zenker M, Rowe SL, Boll S, Klein C, Bollag G, van der Burgt I, Musante L, Kalscheuer 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.
26. Sharland M, Burch M, McKenna WM, Paton MA. 1992. A clinical study of Noonan syndrome. Arch Dis Child 67:178-183.
27. Sonesson SE, Fouron JC, Lessard M. 1992. Intrauterine diagnosis and evolution of a cardiomyopathy in a fetus with Noonan's syndrome. Acta Paediatr 81:368-370.
28. 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.
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. Tartaglia M, Niemeyer CM, Fragale A, Song X, Buechner J, Jung A, Hahlen K, Hasle H, Licht JD, Gelb BD. 2003. Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia. Nat Genet 34:148-150.
31. Tartaglia M, Gelb BD. 2005. Noonan syndrome and related disorders: Genetics and pathogenesis. Annu Rev Genomics Hum Genet 6:45-68.
32. Tartaglia M, Martinelli S, Stella L, Bocchinfuso G, Flex E, Cordeddu V, Zampino G, Burgt IV, Palleschi A, Petrucci TC, Sorcini M, Schoch C, Foa R, Emanuel PD, Gelb BD. 2006. Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease. Am J Hum Genet 78:279-290.
33. Tartaglia M, Pennacchio LA, Zhao C, Yadav KK, Fodale V, Sarkozy A, Pandit B, Oishi K, Martinelli S, Schackwitz W, Ustaszewska A, Martin J, Bristow J, Carta C, Lepri F, Neri C, Vasta I, Gibson K, Curry CJ, Siguero JP, Digilio MC, Zampino G, Dallapiccola B, Bar-Sagi D, Gelb BD. 2007. Gain-of-function SOSI mutations cause a distinctive form of Noonan syndrome. Nat Genet 39:75-79.
34. Yoshida R, Miyate M, Nagal T, Yamazaki T, Ogata T. 2004. A 3-bp deletion mutation of PTPN11 in an infant with severe Noonan syndrome including hydrops fetalis and juvenile myelomonocytic leukaemia. Am J Med Genet Part A 128A:63-66.
35. 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.