Mutações na região aminoterminal do gene COL1A2 e a manifestação da osteogênese imperfeita

Abstract

Osteogenesis Imperfecta (OI) is a genetic disease associated with alterations in the type I collagen molecule. OI is clinically characterized by skeletal fragility and deformity. The majority of OI cases are caused by dominant autosomal mutations on COL1A1 and COL1A2 genes, responsible for the synthesis of the type I collagen molecule. However, there are isolated cases and new cases of recessive autosomal forms of OI. Thus OI is a clinically and genetically heterogeneous group, and it justifies the importance of molecular studies related to this desease. The objective of this research was to characterize the mutation pattern of the beginning region of the COL1A2 gene of OI patients. We studied the exons 1 to 26 of the COL1A2 gene on 33 non-related patients of Vitoria-ES with OI diagnosed using PCR-SSCP and sequencing techniques. We detected an alteration on the exon 16 of a female OI with moderate form of the disease, identified as c.739 G>C (p.Gly247Arg). The clinical report of our patient differs from another one already described on literature. These results may contribute to the understanding of the disease, leading to the development of more efficient treatment methods to patients with OI.