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

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Osteogenesis imperfecta is a clinically heterogenous disease caused by defective collagen syntesis associated with a mutation vista 5 vl5 in the COL1A1 or COL1A2 genes.In this report, we present 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 princess jasmine silhouette 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 delivery, the newborn underwent biphosponat therapy and no fracture was detected until 1 year old.