Prenatal features of Noonan syndrome: Prevalence and prognostic value

Prenatal Diagnosis

Volumn 31, Issue 10, 2011, Pages 949-954

  Baldassarre, G ^a   Mussa, A ^a   Dotta, A ^a   Banaudi, E ^b   Forzano, S ^a   Marinosci, A ^a   Rossi, C ^c   Tartaglia, M ^d   Silengo, M ^a   Ferrero, G B ^a  

^a UNIVERSITY OF TURIN   (Italy)

^b REGINA MARGHERITA CHILDREN S HOSPITAL   (Italy)

^c UNIVERSITY OF BOLOGNA   (Italy)

^d ISTITUTO SUPERIORE DI SANITÀ   (Italy)

Author keywords

Fetal and placental pathology; Fetal echocardiography; Fetal imaging; Fetal ultrasound; Genetic counselling; Maternal serum screening; Single gene disorders

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONGENITAL HEART DISEASE; DEVELOPMENTAL DISORDER; DISEASE ASSOCIATION; DISEASE SEVERITY; ECHOGRAPHY; FEMALE; FETUS MALFORMATION; FOLLOW UP; GENE MUTATION; GENOTYPE; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HYDRAMNIOS; HYDROTHORAX; HYPERTROPHIC CARDIOMYOPATHY; INFANT; INTELLECTUAL IMPAIRMENT; JUVENILE MYELOMONOCYTIC LEUKEMIA; MALE; MOLECULAR DIAGNOSIS; MORPHOLOGY; NEWBORN; NOONAN SYNDROME; NUCHAL TRANSLUCENCY MEASUREMENT; PERINATAL PERIOD; PHENOTYPE; PRENATAL DIAGNOSIS; PRENATAL PERIOD; PRESCHOOL CHILD; PREVALENCE; PRIORITY JOURNAL; PROGNOSIS; PSYCHOMOTOR DEVELOPMENT; PULMONARY VALVE STENOSIS; RETROSPECTIVE STUDY; SCHOOL CHILD; SHORT STATURE;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; CONGENITAL ABNORMALITIES; FEMALE; FETAL DISEASES; GENOTYPE; HUMANS; INFANT; INFANT, NEWBORN; ITALY; MALE; NOONAN SYNDROME; NUCHAL TRANSLUCENCY MEASUREMENT; PHENOTYPE; POLYHYDRAMNIOS; PREGNANCY; PRENATAL DIAGNOSIS; PROGNOSIS; RETROSPECTIVE STUDIES; YOUNG ADULT;

EID: 80053309057     PISSN: 01973851     EISSN: 10970223     Source Type: Journal    
DOI: 10.1002/pd.2804     Document Type: Article

References (24)

1. Achiron R, Heggesh J, Grisaru D, et al. 2000. Noonan syndrome: a cryptic condition in early gestation. Am J Med Genet 92(3): 159-165.
2. Benacerraf B, Greene M, Holmes L. 1989. The prenatal Sonographic features of Noonan's syndrome. J Ultrasound Med 8: 59-63.
3. Carta C, Pantaleoni F, Bocchinfuso G, et al. 2006. Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotype. Am J Hum Genet 79(1): 129-135.
4. Cirstea IC, Kutsche K, Dvorsky R, et al. 2010. A restricted spectrum of NRAS mutations causes Noonan syndrome. Nat Genet 42(1): 27-29.
5. Cordeddu V, Di Schiavi E, Pennacchio LA, et al. 2009. Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair. Nat Genet 41(9): 1022-1026.
6. Donnenfeld AE, Nazir MA, Sindoni F, Librizzi RJ. 1991. Prenatal sonographic documentation of cystic hygroma regression in Noonan syndrome. Am J Med Genet 39: 461-465.
7. Hiippala A, Eronen M, Taipale P, Salonen R, Hiilesmaa V. 2001. Fetal nuchal translucency and normal chromosomes: a long-term follow-up study. Ultrasound Obstet Gynecol 18: 18-22.
8. Houweling AC, de Mooij YM, van der Burgt I, Yntema HG, Lachmeijer AM, Go AT. 2010. Prenatal detection of Noonan syndrome by mutation analysis of the PTPN11 and the KRAS genes. Prenat Diagn 30(3): 284-286.
9. Lee KA, Williams B, Roza K, et al. 2009. PTPN11 analysis for the prenatal diagnosis of Noonan syndrome in fetuses with abnormal ultrasound findings. Clin Genet 75(2): 190-194.
10. Martinelli S, De Luca A, Stellacci E, et al. 2010. Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype. Am J Hum Genet; 87(2): 250-257.
11. Niemeyer CM, Kang MW, Shin DH, et al. 2010. Germline CBL mutations cause developmental abnormalities and predispose to juvenile myelomonocytic leukemia. Nat Genet 42(9): 794-800.
12. Nisbet DL, Griffin DR, Chitty LS. 1999. Prenatal features of Noonan syndrome. Prenat Diagn 19: 642-647.
13. Pandit B, Sarkozy A, Pennacchio LA, et al. 2007. Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. Nat Genet 39(8): 1007-1012.
14. Razzaque MA, Nishizawa T, Komoike Y, et al. 2007. Germline gain-of-function mutations in RAF1 cause Noonan syndrome. Nat Genet 39(8): 1013-1017.
15. Roberts AE, Araki T, Swanson KD, et al. 2007. Germline gain-of-function mutations in SOS1 cause Noonan syndrome. Nat Genet 39(1): 70-74.
16. Sarkozy A, Carta C, Moretti S, et al. 2009. Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum. Hum Mutat 30(4): 695-702.
17. Sharland M, Burch M, McKenna WM, Paton MA. 1992. A clinical study of Noonan syndrome. Arch Dis Child 67: 178-183.
18. Schluter G, Steckel M, Schiffmann H, et al. 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, et al. 2006. Germline KRAS mutations cause Noonan syndrome. Nat Genet 38(3): 331-336.
20. Tartaglia M, Mehler EL, Goldberg R, et al. 2001. Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. Nat Genet 29(4): 465-468.
21. Tartaglia M, Kalidas K, Shaw A, et al. 2002. PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. Am J Hum Genet 70(6): 1555-1563.
22. Tartaglia M, Pennacchio LA, Zhao C, et al. 2007. Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome. Nat Genet 39(1): 75-79.
23. Tartaglia M, Gelb BD. 2010. Disorders of dysregulated signal traffic through the RAS-MAPK pathway: phenotypic spectrum and molecular mechanisms. Ann N Y Acad Sci 1214: 99-121.
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(2): 187-191.