Autosomal recessive osteogenesis imperfecta (AR-OI) is an inherited condition 
which in recent years has been shown with increasing genetic and clinical 
heterogeneity. In this article, we performed clinical assessment and sought 
mutations in patients from 10 unrelated families with AR-OI, one of whom was 
presented with the additional features of Bruck syndrome (BS). Pathogenic 
changes were identified in five different genes: three families had mutations in 
FKBP10, three in SERPINF1, two in LEPRE1, one in CRTAP, and one in PPIB. With 
the exception of a FKBP10 mutation in the BS case, all changes are novel. Of 
note, insertion of an AluYb8 repetitive element was detected in exon 6 of 
SERPINF1. Since the studied patients had variable manifestations and some 
distinctive features, genotype/phenotype correlations are suggested.