title: [COL7A1 gene mutation analysis of dystrophic epidermolysis bullosa and prenatal diagnosis].
abstract: OBJECTIVE
  To analyze the mutations of COL7A1 gene in two dystrophic epidermolysis bullosa (DEB) pedigrees and make prenatal diagnosis for high-risk 11-week-old fetuses.
  
  
  METHODS
  COL7A1 gene was first analyzed by next-generation sequencing for detecting suspicious gene mutations of two probands. And then the mutations were confirmed by polymerase chain reaction and Sanger sequencing in probands, parents and unrelated healthy individuals. Prenatal genetic diagnosis for high-risk fetus was performed by chorionic villus sampling after genotyping.
  
  
  RESULTS
  Four mutations were detected in 2 pedigrees: c.5230G>T (p.E1744X), c.5932C>T (p.R1978X), c.5605-10 T>G (IVS66-10 T>G) , c.8305-1G>A (IVS110-1G>A) among which p.E1744X, IVS66-10 T>G and IVS110-1G>A mutations were first reported. The proband in No.1 family carried p.E1744X and p.R1978X nonsense mutations and her parents were carriers. The proband in No.2 family carried IVS66-10 T>G and IVS110-1G>A splicing mutations and her parents were carriers. All four mutations were not found in 100 healthy individuals. Prenatal diagnosis in No.1 family indicated that the fetus also carried p.E1744X and p.R1978X nonsense mutations as the proband. The fetal parents decided to terminate pregnancy and the result of gene analysis for aborted tissue was consistent with that of prenatal diagnosis.
  
  
  CONCLUSIONS
  COL7A1 gene mutation is etiological for two DEB families. Next-generation sequencing plus Sanger sequencing is effective and accurate for making gene diagnosis and prenatal diagnosis.
authors: Prenatal Diagnosis Center, First Affiliated Hospital, Zhengzhou University, Zhengzhou 450052, China.
authors: Ning
authors: N
authors: Liu
authors: Department of Pediatrics, First Affiliated Hospital, Zhengzhou University, Zhengzhou 450052, China.
authors: Hongxiang
authors: H
authors: Guo
authors: Prenatal Diagnosis Center, First Affiliated Hospital, Zhengzhou University, Zhengzhou 450052, China. Email: kongxd@263.net.
authors: Xiangdong
authors: X
authors: Kong
authors: Huirong
authors: H
authors: Shi
authors: Yun
authors: Y
authors: Yang
authors: Qinghua
authors: Q
authors: Wu
authors: Zhenhua
authors: Z
authors: Zhao
authors: Miao
authors: M
authors: Jiang
mesh_terms: D024143:Collagen Type VII; D016108:Epidermolysis Bullosa Dystrophica; D005260:Female; D005333:Fetus; D005838:Genotype; D006579:Heterozygote; D006801:Humans; D009154:Mutation; D010375:Pedigree; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D011296:Prenatal Diagnosis
chemical_list: C569053:COL7A1 protein, human; D024143:Collagen Type VII