Clinical application of antenatal genetic diagnosis of osteogenesis imperfecta type IV

Med Sci Monit. 2015 Apr 2:21:964-9. doi: 10.12659/MSM.892786.

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.

Material/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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Substitution
  • Base Sequence
  • Collagen Type I / genetics
  • Collagen Type I, alpha 1 Chain
  • DNA / genetics
  • DNA Mutational Analysis
  • Extracellular Matrix Proteins / genetics
  • Female
  • Genetic Testing
  • Genotype
  • Humans
  • Male
  • Molecular Chaperones
  • Molecular Sequence Data
  • Mutation, Missense
  • Osteogenesis Imperfecta / diagnosis*
  • Osteogenesis Imperfecta / genetics*
  • Pedigree
  • Pregnancy
  • Prenatal Diagnosis
  • Silent Mutation

Substances

  • COL1A2 protein, human
  • CRTAP protein, human
  • Collagen Type I
  • Collagen Type I, alpha 1 Chain
  • Extracellular Matrix Proteins
  • Molecular Chaperones
  • DNA

Supplementary concepts

  • Osteogenesis Imperfecta, Type IV