Application of next generation sequencing technology for genetic diagnosis of a neonate and the family with heredi-tary dystrophic epidermolysis bullosa

VernacularTitle:第二代测序技术诊断新生儿营养不良型大疱表皮松解症1例及其家系分析
Author: Yan WANG ; Jing LIANG ; Baoli ZHAO ; Honglin WU ; Xin LIU ; Zhichun FENG
Publication Type:Journal Article
Keywords: dystrophic epidermolysis bullosa; COL7A1 gene; mutation
From: Journal of Clinical Pediatrics 2014;(5):446-448
CountryChina
Language:Chinese
Abstract: Objectives To detect genetic causes of dystrophic epidermolysis bullosa (DEB). Methods Next-generation sequencing was used to detect a neonate with DEB. Sanger sequencing was used to confirm the results and detect his parents and grandmother on his mother side from the family. Results The neonate was found to have heterozygous mutation c.6781C>T of exon 86 in COL7A1 gene.This mutation results in R2261X nonsense mutation in typeⅦcollagen. His mother and grand-mother on his mother side have the same mutation. Conclusion Next-generation sequencing technology is a useful tool for the detection of mutations of COL7A1 gene, which is valuable for clinical application.