title: Genetics and variation in phenotype in Noonan syndrome.
abstract: Noonan syndrome is a well-known clinical entity comprising multiple congenital anomalies characterized by typical facial features, short stature and congenital heart defect. Approximately 50% of cases are sporadic. Familial cases are generally autosomal dominant. In 2001 a gene responsible for Noonan syndrome, PTPN11, encoding for the non-receptor protein tyrosine phosphatase SHP-2, was identified. Mutation analysis of the PTPN11 gene was carried out in Nijmegen in 150 patients with Noonan syndrome. Mutations were found in 68 patients (45%), the most common being A922G in exon 8. In exon 4 a mutation was found that encoded the C-SH2 domain of the PTPN11 gene in two unique patients who shared some uncommon features. A 218C-->T mutation was found in exon 3 in one patient with Noonan syndrome and mild juvenile myelomonocytic leukaemia.
authors.affiliation: Department of Human Genetics, University Medical Centre, Nijmegen, The Netherlands.
authors.forename: Marjolijn
authors.initials: M
authors.lastname: Jongmans
authors.forename: Barto
authors.initials: B
authors.lastname: Otten
authors.forename: Kees
authors.initials: K
authors.lastname: Noordam
authors.forename: Ineke
authors.initials: I
authors.lastname: van der Burgt
mesh_terms: D000225:Adenine; D000328:Adult; D002648:Child; D003596:Cytosine; D005091:Exons / Q000235:genetics; D005260:Female; D014644:Genetic Variation; D005838:Genotype; D006147:Guanine; D006801:Humans; D007223:Infant; D047908:Intracellular Signaling Peptides and Proteins; D008297:Male; D009154:Mutation; D009634:Noonan Syndrome / Q000235:genetics* / Q000473:pathology; D010641:Phenotype; D054592:Protein Tyrosine Phosphatase, Non-Receptor Type 11; D017027:Protein Tyrosine Phosphatases / Q000235:genetics*; D054593:SH2 Domain-Containing Protein Tyrosine Phosphatases; D013941:Thymine; D018909:src Homology Domains / Q000235:genetics
chemical_list: D047908:Intracellular Signaling Peptides and Proteins; D006147:Guanine; D003596:Cytosine; C516724:PTPN11 protein, human; D054592:Protein Tyrosine Phosphatase, Non-Receptor Type 11; D017027:Protein Tyrosine Phosphatases; D054593:SH2 Domain-Containing Protein Tyrosine Phosphatases; D000225:Adenine; D013941:Thymine