Four cases of PTPN11 associated RASopathies:Analysis of the correlation between gene mutation and clinical phenotype

VernacularTitle:PTPN11基因突变所致RAS病四例报道及临床相关性分析
Author: Lidan ZHANG ¹ ; Wei WANG ; Lulu YANG ; Manqing SUN ; Wenli LU ; Zhiya DONG ; Defen WANG
Author Information

1. 200025,上海交通大学医学院附属瑞金医院儿内科
Keywords: PTPN11 gene; RASopathies; Noonan syndrome; LEOPARD syndrome
From: Chinese Journal of Endocrinology and Metabolism 2018;34(10):848-851
CountryChina
Language:Chinese
Abstract: PTPN11 is the most common mutation gene of RAS disease, which is located in the upstream of RAS/MAPK pathway and participates in signal transduction. Because the molecular mechanism of RAS's disease involves the same pathway, it may present a certain commonality in clinic, but the different genotypes with PTPN11 mutation may also express different phenotypes. Therefore, it is not easy to identify and diagnose this disease early in clinic. The present article aims to analyze the correlation between the clinical phenotype and genotype of 4 patients with RAS disease.