Abstract

PAVON DE PAZ, I. et al. Classic non-deforming osteogenesis imperfecta: report of a new mutation in the COL1A1 gene in two cases in the same family. Rev Osteoporos Metab Miner [online]. 2016, vol.8, n.1, pp.36-39. ISSN 2173-2345.

Osteogenesis imperfecta (OI), is a rare condition which is heterogeneous in clinical and genetic terms. Several types have been described and its main feature is bone fragility. It is generally caused by gene mutations in those genes which codify for the α1 and α2 of the type 1 collagen (COL1A1 and COL1A2) with dominant autosomal heredity. We report the case of two relatives (father and daughter) with OI whose genetic study shows a mutation in COL1A1 previously undetected: the deletion of a Guanine, G(c.3524delG). Clinical aspects, heredity and reproductive options of the patients affected are considered.

Keywords : osteogenesis imperfecta; genetic research; COL1A1 gene.

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