Genome-wide Copy Number Variations Scanningc Of 16 Congenital Cystic Lung Diseases Patients

Objective: To explore the potentially relevant CNVs with congenital cystic lung diseases disease by genome-wide CNVs analysis.Methods:Collect the analyse clinical data of 16 patients diagnosed with congenital cystic lung diseases who admitted to our hospital from September 2014 to March 2017 patients.Extracting DNA and using SNP array to detect the genome-wide CNVs,in combination with bioinformatics analysis.Results:1.Of the 16 cases,there were 12 males and 4 females.They were aged between 2 months and 12 years and 6 months.12 cases had a history of recurrent respiratory tract infection,no clear family history.2.These cases were given priority to with fever,cough,sputum in clinical symptom and had no specificity.8 cases of children showed decreased breath sounds when lung auscultation.3.By CT scanning,37.5% of cases showed single or multiple cysts or airbag shadow and 50% of cases showed group sheet density shadowwith multiple bright or gas chamber shadow.After enhanced scanning,4cases showed the wall or the septum were strengthened.2 cases of pulmonary sequestration were diagnosed by CTA.4.Among the 16 cases,there were 4 CNVs with unknown Clinical significance.Abnormal amplification of HDAC8 gene were found in 4patients diagnosed with bronchogenic cyst.Conclusions:1.Of congenital cystic lung diseases,bronchogenic cyst is most common.The patients are often with recurrent respiratory infection and atypical clinical symptoms.Early CT and CTA examination is the key to diagnosis.2.The congenital cystic lung diseases is less likely to be associated with the CNV.3.HDAC8 gene may be related to bronchogenic cyst.