Noonan syndrome: Prenatal diagnosis in a woman carrying a PTPN11 gene mutation

Journal of Maternal-Fetal and Neonatal Medicine

Volumn 23, Issue 7, 2010, Pages 688-691

  González Huerta, Norma Celia ^a   Valdés Miranda, Juan Manuel ^b   Pérez Cabrera, Adrián ^b   Pacheco Cuellar, Guillermo ^b   González Huerta, Luz Maria ^b   Cuevas Covarrubias, Sergio Alberto ^b  

^a Instituto Nacional de Rehabilitacin   (Mexico)

^b HOSPITAL GENERAL DE MÉXICO   (Mexico)

Author keywords

Noonan syndrome; Prenatal diagnosis; PTPN11 gene

Indexed keywords

PROTEIN TYROSINE PHOSPHATASE SHP 2; PTPN11 PROTEIN, HUMAN;

ADULT; AMNIOCENTESIS; ARTICLE; CASE REPORT; CLINICAL FEATURE; FEMALE; GENE MUTATION; GENETIC ANALYSIS; HUMAN; KARYOTYPE; NOONAN SYNDROME; PREGNANCY; PREGNANT WOMAN; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; ULTRASOUND; FETUS ECHOGRAPHY; GENETIC SCREENING; GENETICS; HETEROZYGOTE; MUTATION; NUCLEOTIDE SEQUENCE; PHYSIOLOGY; PROCEDURES; THREE DIMENSIONAL IMAGING;

ADULT; BASE SEQUENCE; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC TESTING; HETEROZYGOTE; HUMANS; IMAGING, THREE-DIMENSIONAL; MUTATION; NOONAN SYNDROME; PREGNANCY; PROTEIN TYROSINE PHOSPHATASE, NON-RECEPTOR TYPE 11; ULTRASONOGRAPHY, PRENATAL;

EID: 77953641920     PISSN: 14767058     EISSN: 14764954     Source Type: Journal    
DOI: 10.3109/14767050903440455     Document Type: Article

References (10)

1. Allanson JE, Hall JG, Hughes HE, Preus M, Witt RD. Noonan syndrome: the changing phenotype. Am JMed Genet 1985;21:507-514.
2. Sharland M, Burch M, McKenna WM, Patton MA. A clinical study of Noonan syndrome. Arch Dis Child 1992;67:178-183
3. Allanson JE. Noonan syndrome. J Med Genet 1987;24:9-13.
4. Van der Burgt I, Thoonen G, Roosenboom N, Assman- Hulsmans C, Gabreels F, Otten B, Brunner HG. Patterns of cognitive functioning in school-aged children with Noonan syndrome associated with variability in phenotypic expression. J Pediatr 1999;135:707-713.
5. Lee DA, Portnoy S, Hill P, Gillberg C, Patton MA. Psychological profile of children with Noonan syndrome. Dev Med Child Neurol 2005;47:35-38.
6. Schluter G, Steckel M, Schiffmann H, Harms K, Viereck V, Emons G, Burfeind P, Pauer HU. Prenatal DNA diagnosis of Noonan syndrome in a fetus with massive hygroma colli, pleural effusion and ascites. Prenat Diagn 2005;25: 574-576.
7. Neel BG, Gu H, Pao L. The ''Shp''ing news: SH2 domaincontaining tyrosine phosphatases in cell signaling. Trends Biochem Sci 2003;28:284-293.
8. Tartaglia M, Kalidas K, Shaw A, Song X, Musat DL, van der Burgt I, Brunner HG, Bertola DR, Crosby A, Ion A, et al. PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. Am J Hum Genet 2002;70:1555-1563.
9. 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 phosphatise SHP-2, cause Noonan syndrome. Nat Genet 2001;29:465-468.
10. Hof P, Pluskey S, Dhe-Paganon S, Eck MJ, Shoelson SE. Crystal structure of the tyrosine phosphatase SHP-2. Cell 1998;92:441-450.