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

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

doi:10.1157/13117708

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

Ospedale Pediatrico Bambino Gesu

Research output: Contribution to journal › Article › peer-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 contribution	SOS1 mutation: A new cause of Noonan syndrome
Original language	Spanish
Pages (from-to)	365-368
Number of pages	4
Journal	Anales de Pediatria
Volume	68
Issue number	4
DOIs	https://doi.org/10.1157/13117708
Publication status	Published - Apr 1 2008

Keywords

Congenital abnormalities
Genetics
Noonan syndrome
SOS1

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health

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10.1157/13117708

Cite this

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title = "Mutaci{\'o}n en el gen SOS1 como nueva causa de s{\'i}ndrome de Noonan",

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.",

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AU - Serrano-Martín, M. M.

AU - Martínez-Aedo, M. J.

AU - Tartaglia, M.

AU - López Siguero, Juan Pedro

PY - 2008/4/1

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N2 - 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.

AB - 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.

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KW - Genetics

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

Abstract

Keywords

ASJC Scopus subject areas

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