Fiche publication
Date publication
mars 2020
Journal
Clinical genetics
Auteurs
Membres identifiés du Cancéropôle Est :
Pr FAIVRE Laurence
,
Pr THAUVIN-ROBINET Christel
Tous les auteurs :
Ranza E, Guimier A, Verloes A, Capri Y, Marques C, Auclair M, Mathieu-Dramard M, Morin G, Thevenon J, Faivre L, Thauvin-Robinet C, Innes AM, Dyment DA, Vigouroux C, Amiel J
Lien Pubmed
Résumé
Overlapping syndromes such as Noonan, Cardio-Facio-Cutaneous, Noonan syndrome with multiple lentigines and Costello syndromes are genetically heterogeneous conditions sharing a dysregulation of the RAS/MAPK pathway and are known collectively as the RASopathies. PTPN11 was the first disease-causing gene identified in Noonan syndrome and remains the more prevalent. We report 7 patients from 3 families presenting heterozygous missense variants in PTPN11 likely responsible for a disease phenotype distinct from the classical Noonan syndrome. The clinical presentation and common features of these 7 cases overlap with the SHORT syndrome. The latter is the consequence of PI3K/AKT signaling deregulation with the predominant disease-causing gene being PIK3R1. Our data suggest that the phenotypic spectrum associated with pathogenic variants of PTPN11 could be wider than previously described, and this could be due to the dual activity of SHP2 (ie, PTPN11 gene product) on the RAS/MAPK and PI3K/AKT signaling. This article is protected by copyright. All rights reserved.
Mots clés
PTPN11, Rasopathies, SHORT, SHORT-like syndrome
Référence
Clin. Genet.. 2020 Mar 31;:
