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Background  Osteogenesis imperfecta (OI) is a rare bone disorder. In 90% of cases, OI is caused by mutations in the  COL1A1/2  genes, which code procollagen α1 and α2 chains. The main aim of the current research was to identify the mutational spectrum of  COL1A1/2  genes in Estonian patients. The small population size of Estonia provides a unique chance to explore the collagen I mutational profile of 100% of OI families in the country.    Methods  We performed mutational analysis of peripheral blood gDNA of 30 unrelated Estonian OI patients using Sanger sequencing of  COL1A1  and  COL1A2  genes, including all intron-exon junctions and 5′UTR and 3′UTR regions, to identify causative OI mutations.    Results  We identified  COL1A1/2  mutations in 86.67% of patients (26/30). 76.92% of discovered mutations were located in the  COL1A1  ( n  = 20) and 23.08% in the  COL1A2  ( n  = 6) gene. Half of the  COL1A1/2  mutations appeared to be novel. The percentage of quantitative  COL1A1/2  mutations was 69.23%. Glycine substitution with serine was the most prevalent among missense mutations. All qualitative mutations were situated in the chain domain of pro-α1/2 chains.    Conclusion  Our study shows that among the Estonian OI population, the range of collagen I mutations is quite high, which agrees with other described OI cohorts of Northern Europe. The Estonian OI cohort differs due to the high number of quantitative variants and simple missense variants, which are mostly Gly to Ser substitutions and do not extend the chain domain of  COL1A1/2  products.

Mutational analysis of COL1A1 and COL1A2 genes among Estonian osteogenesis imperfecta patients