Title: Application of next generation sequencing technology for genetic diagnosis of a neonate and the family with hereditary dystrophic epidermolysis bullosa
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 type Ⅶ collagen. His mother and grandmother 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.
Publication Year: 2014
Publication Date: 2014-01-01
Language: en
Type: article
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