[SOS1 mutation: a new cause of Noonan syndrome].

Abstract

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.

• Authors: M M Serrano-Martín, M J Martínez-Aedo, M Tartaglia, J P López-Siguero
• Journal: Anales de pediatria (Barcelona, Spain : 2003) (An Pediatr (Barc)) Vol. 68 Issue 4 Pg. 365-8 (Apr 2008) ISSN: 1695-4033 [Print] Spain
• Vernacular Title: Mutación en el gen SOS1 como nueva causa de síndrome de Noonan.
• PMID: 18394382 (Publication Type: Case Reports, English Abstract, Journal Article)

Chemical References

• SOS1 Protein
• PTPN11 protein, human
• Protein Tyrosine Phosphatase, Non-Receptor Type 11

Topics

• Adolescent
• Humans
• Male
• Noonan Syndrome (genetics)
• Phenotype
• Point Mutation (genetics)
• Protein Tyrosine Phosphatase, Non-Receptor Type 11 (genetics)
• SOS1 Protein (genetics)