PTPN11基因突变所致RAS病四例报道及临床相关性分析

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

PTPN11是RAS病最常见的突变基因，其位于RAS/丝裂原活化的蛋白激酶（MAPK）信号转导通路的上游。由于RAS病的分子机制涉及同一通路，故在临床上可呈现一定的共性，但同为PTPN11突变的不同基因型亦可出现差异表型，故在临床上不易早期识别和确诊。本文旨在分析4例RAS病患者临床表型与基因型之间的相关性。

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.