title: Clinical application of antenatal genetic diagnosis of osteogenesis imperfecta type IV.
abstract: BACKGROUND
  Clinical analysis and genetic testing of a family with osteogenesis imperfecta type IV were conducted, aiming to discuss antenatal genetic diagnosis of osteogenesis imperfecta type IV.
  
  
  METHODS
  Preliminary genotyping was performed based on clinical characteristics of the family members and then high-throughput sequencing was applied to rapidly and accurately detect the changes in candidate genes.
  
  
  RESULTS
  Genetic testing of the III5 fetus and other family members revealed missense mutation in c.2746G>A, pGly916Arg in COL1A2 gene coding region and missense and synonymous mutation in COL1A1 gene coding region.
  
  
  CONCLUSIONS
  Application of antenatal genetic diagnosis provides fast and accurate genetic counseling and eugenics suggestions for patients with osteogenesis imperfecta type IV and their families.
authors.affiliation: Department of Obstetrics and Gynecology, First Affiliated Hospital of Anhui Medical University, Hefei, Anhui, China (mainland).
authors.forename: Jing
authors.initials: J
authors.lastname: Yuan
authors.affiliation: Department of Obstetrics and Gynecology, First Affiliated Hospital of Anhui Medical University, Hefei, Anhui, China (mainland).
authors.forename: Song
authors.initials: S
authors.lastname: Li
authors.affiliation: Department of Obstetrics and Gynecology, First Affiliated Hospital of Anhui Medical University, Hefei, Anhui, China (mainland).
authors.forename: YeYe
authors.initials: Y
authors.lastname: Xu
authors.affiliation: Department of Obstetrics and Gynecology, First Affiliated Hospital of Anhui Medical University, Hefei, Anhui, China (mainland).
authors.forename: Lin
authors.initials: L
authors.lastname: Cong
mesh_terms: D019943:Amino Acid Substitution; D001483:Base Sequence; D024042:Collagen Type I / Q000235:genetics; D000090602:Collagen Type I, alpha 1 Chain; D004247:DNA / Q000235:genetics; D004252:DNA Mutational Analysis; D016326:Extracellular Matrix Proteins / Q000235:genetics; D005260:Female; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D008297:Male; D018832:Molecular Chaperones; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D010013:Osteogenesis Imperfecta / Q000175:diagnosis* / Q000235:genetics*; D010375:Pedigree; D011247:Pregnancy; D011296:Prenatal Diagnosis; D000069456:Silent Mutation
chemical_list: C000601279:COL1A2 protein, human; C108053:CRTAP protein, human; D024042:Collagen Type I; D000090602:Collagen Type I, alpha 1 Chain; D016326:Extracellular Matrix Proteins; D018832:Molecular Chaperones; D004247:DNA
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