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eISSN: 1643-3750

Clinical Application of Antenatal Genetic Diagnosis of Osteogenesis Imperfecta Type IV

Jing Yuan, Song Li, YeYe Xu, Lin Cong

Department of Obstetrics and Gynecology, First Affiliated Hospital of Anhui Medical University, Hefei, Anhui, China (mainland)

Med Sci Monit 2015; 21:964-969

DOI: 10.12659/MSM.892786

Available online:

Published: 2015-04-02


#892786

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 and 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.

Keywords: Base Sequence, Amino Acid Substitution, Collagen Type I - genetics, DNA - genetics, DNA Mutational Analysis, Extracellular Matrix Proteins - genetics, genetic testing, Genotype, Molecular Sequence Data, Mutation, Missense, Osteogenesis Imperfecta - genetics, Pedigree, Pregnancy, Prenatal Diagnosis, Silent Mutation



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