[Clinical symptoms and molecular pathogenesis of Noonan syndrome--current concepts].
Noonan syndrome (NS; MIM 163950) is an autosomal dominant disorder. With incidence of 1/1000 to 1/2500 live births, NS belongs to the most common genetic disorders. Typical features of NS are: short stature, chest deformities, congenital heart defects, cryptorchidism and dysmorphic features. Mutations of PTPN11 gene (located on chromosome 12q24.1) are responsible for NS and are identified in 33-60% cases. Less than half of the cases are familial. This paper presents current opinion on clinical symptoms, molecular pathogenesis and possibilities of growth hormone therapy. The genotype--phenotype correlation is also discussed.
Klapecki
Jakub
J
Zakład Genetyki Medycznej, Instytut Matki i Dziecka, ul. Kasprzaka 17a, 01-211 Warszawa, Poland.
Obersztyn
Ewa
E
Laniewski-Wollk
Mikolaj
M
Szpecht-Potocka
Agnieszka
A
Mazurczak
Tadeusz
T
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics; D004252:DNA Mutational Analysis; D015316:Genetic Therapy; D005838:Genotype; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D020125:Mutation, Missense; D009634:Noonan Syndrome / Q000175:diagnosis* / Q000235:genetics* / Q000628:therapy; D010641:Phenotype; D054592:Protein Tyrosine Phosphatase, Non-Receptor Type 11; D017027:Protein Tyrosine Phosphatases / Q000235:genetics*; D054593:SH2 Domain-Containing Protein Tyrosine Phosphatases; D018909:src Homology Domains / Q000235:genetics*
D047908:Intracellular Signaling Peptides and Proteins; C516724:PTPN11 protein, human; D054592:Protein Tyrosine Phosphatase, Non-Receptor Type 11; D017027:Protein Tyrosine Phosphatases; D054593:SH2 Domain-Containing Protein Tyrosine Phosphatases