Osteogenesis imperfecta Type IV: a newly identified variant at position c.560 (G T; p.Gly187Val) in the COL1A2 gene

Osteogenesis imperfecta Type IV: a newly identified variant at position c.560 (G T; p.Gly187Val) in the COL1A2 gene

Blog Article

Osteogenesis imperfecta is a clinically heterogenous disease caused by defective collagen syntesis associated with a mutation in the COL1A1 or COL1A2 genes.In this report, we present shellac starter set douglas a case of osteogenesis imperfecta (OI) type IV, seen in a female fetus with incurved femurs at 18 weeks of gestation.Molecular analysis of the newborn revealed a novel mutation at position c.560 (c.560 G T) of the exon 12 in the COL1A2 gene; which lead to the glycine modification with valine (p.

Gly187Val) at codon 187.The pregnancy follow-up was uneventful.After rab valiance jakke herre delivery, the newborn underwent biphosponat therapy and no fracture was detected until 1 year old.