02 April 2015 : Clinical Research
Clinical Application of Antenatal Genetic Diagnosis of Osteogenesis Imperfecta Type IV
Jing YuanACE, Song LiF, YeYe XuB, Lin CongBDOI: 10.12659/MSM.892786
Med Sci Monit 2015; 21:964-969
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 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, 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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