Gene mutation and clinical phenotype analysis of patients with Noonan syndrome and hypertrophic cardiomyopathy
10.3760/cma.j.issn.0578-1310.2017.10.014
- VernacularTitle: Noonan综合征合并肥厚型心肌病患儿基因突变与临床表型分析
- Author:
Xinhan LIU
1
;
Wenhong DING
;
Ling HAN
;
Xiaoran LIU
;
Yanyan XIAO
;
Jing YANG
;
Ying MO
Author Information
1. Pediatric Cardiovascular Center, Capital Medical University Affiliated Beijing Anzhen Hospital, Beijing 100029, China
- Publication Type:Clinical Trail
- Keywords:
Cardiomyopathy, hypertrophic;
Mutation;
Noonan syndrome
- From:
Chinese Journal of Pediatrics
2017;55(10):780-784
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To analyze the gene mutations and clinical features of patients with Noonan syndrome and hypertrophic cardiomyopathy.
Method:Determined the mutation domain in five cases diagnosed with Noonan syndrome and hypertrophic cardiomyopathy and identified the relationship between the mutant domain and hypertrophic cardiomyopathy by searching relevant articles in pubmed database.
Result:Three mutant genes (PTPN11 gene in chromosome 12, RIT1 gene in chromosome 1 and RAF1 gene in chromosome 3) in five cases all had been reported to be related to hypertrophic cardiomyopathy. The reported hypertrophic cardiomyopathy relevant genes MYPN, MYH6 and MYBP3 had also been found in case 1 and 2. Patients with same gene mutation had different clinical manifestations. Both case 4 and 5 had RAF1 mutation (c.770C>T). However, case 4 had special face, low IQ, mild pulmonary artery stenosis, and only mild ventricular hypertrophy.
Conclusion:Noonan syndrome is a genetic heterogeneity disease. Our study identified specific gene mutations that could result in Noonan syndrome with hypertrophic cardiomyopathy through molecular biology methods. The results emphasize the importance of gene detection in the management of Noonan syndrome.
