Genome-wide copy number variations in congenital cystic lung disease
10.3969/j.issn.1000-3606.2018.02.002
- VernacularTitle:先天性肺囊性疾病患儿基因组拷贝数变异分析
- Author:
Hong ZHENG
1
;
Donghong PENG
Author Information
1. 重庆医科大学附属儿童医院 国家住院医师培训示范基地 儿童疾病研究教育部重点实验室 儿科学重庆市重点实验室 重庆市国际科技合作基地 重庆 400014
- Keywords:
Congenital cystic lung lesions;
copy number variations;
pathogenesis;
clinical features
- From:
Journal of Clinical Pediatrics
2018;36(2):87-90
- CountryChina
- Language:Chinese
-
Abstract:
Objective To explore the potentially relevant copy number variations (CNVs) in congenital cystic lung diseases (CCLD). Methods Clinical data of 16 patients diagnosed with CCLD and CNVs results were retrospectively analyzed. Results Of 16 cases, 12 were males and 4 were females aged between 2 months and 12 years and 6 months. Of 16 cases, 10 cases were bronchogenic cyst, 4 cases were pulmonary sequestration, 2 cases were congenital cystic adenomatoid malformation, 1 case was congenital lobar emphysema and one case was not classified. These cases presented mainly with fever, cough, and sputum without specificity. Six CNVs with unknown clinical significance were found in two patients. Abnormal amplification of HDAC8 gene was found in 4 patients diagnosed with BC.Conclusions CCLD is less likely to be associated with the CNVs;HDAC8 gene may be related to bronchogenic cyst.
