Analysis of the correlation between copy number difference of ADAM3A gene and congenital diaphragmatic hernia

VernacularTitle:ADAM3A基因拷贝数差异与先天性膈疝相关性分析
Author: Ying XIONG ; Weiping YE ; Hang GU
Keywords: microarray chip; congenital diaphragmatic hernia; ADAM3A gene; copy number change
From: Journal of Clinical Pediatrics 2017;35(9):655-657
CountryChina
Language:Chinese
Abstract: Objective To evaluate the relationship between the number of copies of genes and congenital diaphragmatic hernia by the detection of multiple loci in infants with congenital diaphragmatic hernia. Methods Multiple loci were analyzed by Microarray analysis of Affymetrix Cytoscan 750 k in 11 neonates with congenital diaphragmatic hernia, in whom 1 case was twins,and his fraternal twins were diagnosed of fetuse intestinal dilatation. Results A homozygous deletion (8 p11.22 arr[hg19]) was found in one neonate with congenital diaphragmatic hernia, and was eventually confirmed that the depolymerization of the biotin and metalloprotease (ADAM) 3A genes lead to homozygous deletion of the 1～15 exon. Conclusion The alteration of ADAM3A copy number may be the cause of congenital diaphragmatic hernia.