Genetic diagnosis and follow-up study in pediatric neurofibromatosis 1 patients
10.3760/cma.j.cn112150-20210419-00385
- VernacularTitle:儿童Ⅰ型神经纤维瘤患者的基因诊断和随访研究
- Author:
Ruen YAO
1
;
Guoqiang LI
;
Tingting YU
;
Niu LI
;
Jiwen WANG
;
Xiumin WANG
;
Jian WANG
Author Information
1. 上海交通大学医学院附属上海儿童医学中心遗传分子诊断科 200127
- Keywords:
Neurofibromatosis 1;
Genetic testing;
Cafe-au-lait spots;
Dwarfism
- From:
Chinese Journal of Preventive Medicine
2021;55(9):1089-1093
- CountryChina
- Language:Chinese
-
Abstract:
Objective:Based on the genetic diagnosis and follow-up study on pediatric neurofibromatosis 1 (NF1) patients, interrogating the genotype-phenotype correlations of patients with NF1 mutations.Methods:32 Patients from age of 2 months to 5 years old (17 male and 15 female) suspected for neurofibromatosis 1 were recruited during September 2016 to January 2018 in Shanghai Children′s Medical Center retrospectively. Genetic diagnosis was applied to detect pathogenic variants. Long-term follow-up study were conducted to reveal progress of the disease and genotype-phenotype correlations.Results:27 patients were detected with pathogenic NF1 variants, among them three were not reported. 3 patients inherited pathogenic variants from their NF1 diagnosed parents, all the other variants were de novo. Progressive development of phenotypes wasn′t observed in most patients during the follow-up (14/27). Some patients were diagnosed with short stature, pulmonary artery stenosis and developmental delay during the follow-up(7/27). Short stature and pulmonary artery stenosis may be associated with missense mutation and severe truncation mutation of NF1 gene, respectively. Conclusions:Genetic diagnosis is required in young patients of NF1.Follow-up plan of pediatric patients should be adjusted based on genetic findings. Early follow-up of cardiovascular abnormalities should be noted in patients with missense mutation. Height development in patients with severe truncating variants are needed.
