Endocrine Abstracts

Novel mutation of the COL1A2 gene in a patient with osteogenesis imperfecta

S Pua, K Ashawesh, NPN Murthy & H Randeva

WISDEM centre, University Hospital of Coventry and Warwickshire, Coventry, UK.

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Introduction: Osteogenesis imperfecta (OI) is classified on the basis of molecular genetics, mode of inheritance, clinical and radiological findings. The genes implicated are either COL1A1 or COL1A2. We report a case of a novel mutation of OI in the COL1A2 gene.

Case: A 24-year-old teacher with type 1 Diabetes Mellitus, presented to our Endocrine Clinic with recurrent fractures since childhood. At 7 months old, she fractured her left leg. At 18 years old, she sustained a T7 vertebrae fracture and left knee fracture after slipping on a pavement. She had neither teeth problems nor hearing loss. Family history revealed that both her father and sister had been diagnosed with OI, after having recurrent fractures. Her medications include Ibandronate, Calcichew D3 Forte, OCP (Cilest), and insulin. On examination, height is 5′ 2″, eyes light blue in hue, normal dentition. Her DEXA scan showed osteoporosis of spine and osteopenia of the hip. Genetic testing showed heterozygosity for a c.[343G>A] mutation predicted to result in a p.[Gly115Arg] amino acid change in exon 8 of COL1A2.

Comment: Glycine changes in COL1A2 as what was found in our patient are associated with OI types I–IV, and that insilico analysis supports its pathogenicity.

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Endocrine Abstracts (2009) 19 P15