Mutation of the COL1A1 gene causing OI

Osteogenesis imperfecta (OI) is a heterogeneous connective tissue disorder that manifests clinically as extreme bone fragility, brittleness and growth disorder.

In this case report, Aftab et al. present the case of a young woman with a new diagnosis of OI following multiple low-trauma fractures throughout her childhood. This is also the first report of the novel mutation, c.3880_3883dup within exon 50 of the COL1A1 gene presenting with the phenotype of OI type 1.

This case illustrates the importance of early diagnosis and instigation of an effective management plan through a multidisciplinary approach in patients with OI.

Read the full case report at Aftab et al (2013) Endocrinology, Diabetes & Metabolism Case Reports; DOI: 10.1530/EDM-13-0002.