Mutación en el gen SOS1 como nueva causa de síndrome de Noonan

Translated title of the contribution: SOS1 mutation: A new cause of Noonan syndrome

M. M. Serrano-Martín, M. J. Martínez-Aedo, M. Tartaglia, Juan Pedro López Siguero

Research output: Contribution to journalArticlepeer-review

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.

Translated title of the contributionSOS1 mutation: A new cause of Noonan syndrome
Original languageSpanish
Pages (from-to)365-368
Number of pages4
JournalAnales de Pediatria
Volume68
Issue number4
DOIs
Publication statusPublished - Apr 1 2008

Keywords

  • Congenital abnormalities
  • Genetics
  • Noonan syndrome
  • SOS1

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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