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 journalArticle

1 Citation (Scopus)

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.

Original languageSpanish
Pages (from-to)365-368
Number of pages4
JournalAnales de Pediatria
Volume68
Issue number4
DOIs
Publication statusPublished - Apr 1 2008

Fingerprint

Noonan Syndrome
Mutation
Non-Receptor Type 11 Protein Tyrosine Phosphatase
Phenotype
Cryptorchidism
Tyrosine
Heart Diseases
Genotype
Genes

Keywords

  • Congenital abnormalities
  • Genetics
  • Noonan syndrome
  • SOS1

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

Serrano-Martín, M. M., Martínez-Aedo, M. J., Tartaglia, M., & López Siguero, J. P. (2008). Mutación en el gen SOS1 como nueva causa de síndrome de Noonan. Anales de Pediatria, 68(4), 365-368. https://doi.org/10.1157/13117708

Mutación en el gen SOS1 como nueva causa de síndrome de Noonan. / Serrano-Martín, M. M.; Martínez-Aedo, M. J.; Tartaglia, M.; López Siguero, Juan Pedro.

In: Anales de Pediatria, Vol. 68, No. 4, 01.04.2008, p. 365-368.

Research output: Contribution to journalArticle

Serrano-Martín, MM, Martínez-Aedo, MJ, Tartaglia, M & López Siguero, JP 2008, 'Mutación en el gen SOS1 como nueva causa de síndrome de Noonan', Anales de Pediatria, vol. 68, no. 4, pp. 365-368. https://doi.org/10.1157/13117708
Serrano-Martín MM, Martínez-Aedo MJ, Tartaglia M, López Siguero JP. Mutación en el gen SOS1 como nueva causa de síndrome de Noonan. Anales de Pediatria. 2008 Apr 1;68(4):365-368. https://doi.org/10.1157/13117708
Serrano-Martín, M. M. ; Martínez-Aedo, M. J. ; Tartaglia, M. ; López Siguero, Juan Pedro. / Mutación en el gen SOS1 como nueva causa de síndrome de Noonan. In: Anales de Pediatria. 2008 ; Vol. 68, No. 4. pp. 365-368.
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