Application of next generation sequencing technology for genetic diagnosis of a neonate and the family with heredi-tary dystrophic epidermolysis bullosa / 临床儿科杂志
Journal of Clinical Pediatrics
;
(12): 446-448, 2014.
Artigo
em Chinês
| WPRIM
| ID: wpr-447432
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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Tipo de estudo:
Estudo diagnóstico
Idioma:
Chinês
Revista:
Journal of Clinical Pediatrics
Ano de publicação:
2014
Tipo de documento:
Artigo
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