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Noonan syndrome: Severe phenotype and PTPN11 mutations

Pilar Carrasco Salas¹, Gertrudis Gómez-Molina², Páxedes Carreto-Alba²

¹Human Genetics Unit, Juan Ramón Jiménez Hospital, Huelva, Spain.

Medicina Clinica

|April 29, 2018

Abstract

Introduction And Objective:

Noonan syndrome (NS) is a genetic disorder characterized by a wide range of distinctive features and health problems. It caused in 50% of cases by missense mutations in PTPN11 gene. It has been postulated that it is possible to predict the disease course based into the impact of mutations on the protein.

Patients And Methods:

We report two cases of severe NS phenotype including hydrops fetalis. PTPN11 gene was studied in germinal cells of both patients by sequencing.

Results:

Two different mutations (p.Gly503Arg and p.Met504Val) was detected in PTPN11 gene.

Discussion:

These mutations have been reported previously, and when they were germinal variants, patients presented classic NS, NS with other malignancies and recently, p.Gly503Arg has been also observed in a patient with severe NS and hydrops fetalis, as our cases. Therefore, these observations shade light on that it is not always possibly to determine the genotype-phenotype relation based into the impact of mutations on the protein in NS patients with PTPN11 mutations.

Keywords:

Gen PTPN11 Germline mutations Hydrops fetalis Mutaciones germinales Noonan syndrome PTPN11 gene Síndrome de Noonan

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