[SOS1 mutation: a new cause of Noonan syndrome].
Noonan syndrome, characterized by short stature, facial anomalies, heart disease and cryptorchidism in males, is an autosomal dominant, genetically heterogeneous disease. Approximately 50 % of Noonan syndrome cases are caused by gain-of-function mutations in PTPN11, encoding the tyrosine phosphatase (SHP2) and 5 % are caused by KRAS mutations. Recently, a new mutation in SOS1 gene has been identified in approximately 20 % of cases of Noonan syndrome without PTPN11 mutation. That difference in genotype has a relationship with phenotype that we must investigate. We report a case of Noonan syndrome due to an SOS1 mutation; we describe his phenotype and subsequent outcome.
Serrano-Martín
M M
MM
Servicio de Endocrinología Pediátrica. Departamento de Pediatría. Hospital Materno-Infantil Carlos Haya. Málaga. España.
Martínez-Aedo
M J
MJ
Tartaglia
M
M
López-Siguero
J P
JP
D000293:Adolescent; D006801:Humans; D008297:Male; D009634:Noonan Syndrome / Q000235:genetics*; D010641:Phenotype; D017354:Point Mutation / Q000235:genetics*; D054592:Protein Tyrosine Phosphatase, Non-Receptor Type 11 / Q000235:genetics*; D020837:SOS1 Protein / Q000235:genetics*
D020837:SOS1 Protein; C516724:PTPN11 protein, human; D054592:Protein Tyrosine Phosphatase, Non-Receptor Type 11