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

Abstract

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 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 delivery, the newborn underwent biphosponat therapy and no fracture was detected until 1 year old.

• Authors: Akin Usta, Dilay Karademir, Eylem Sen, Selcuk Yazici, Ertan Adali, Erkan Erdem, Meric Karacan
• Journal: The Pan African medical journal (Pan Afr Med J) Vol. 27 Pg. 198 ( 2017) ISSN: 1937-8688 [Electronic] Uganda
• PMID: 28904723 (Publication Type: Case Reports, Journal Article)

Chemical References

• Collagen Type I
• Diphosphonates
• Osteogenesis Imperfecta, Type IV

Topics

• Adult
• Collagen Type I (genetics)
• Diphosphonates (administration & dosage)
• Exons
• Female
• Femur (abnormalities)
• Follow-Up Studies
• Humans
• Infant, Newborn
• Mutation
• Osteogenesis Imperfecta (drug therapy, genetics)
• Pregnancy