Genotype-Phenotype Correlations in Autosomal Dominant Osteogenesis Imperfecta.pdfVIP

SAGE-Hindawi Access to Research Journal of Osteoporosis Volume 2011, Article ID 540178, 9 pages doi:10.4061/2011/540178 Review Article Genotype-Phenotype Correlations in Autosomal Dominant Osteogenesis Imperfecta I. Mouna Ben Amor, Francis H. Glorieux, and Frank Rauch Shriners Hospital for Children and McGill University, Montreal, QC, Canada H3G 1A6 Correspondence should be addressed to Frank Rauch, frauch@shriners.mcgill.ca Received 5 April 2011; Accepted 4 July 2011 Academic Editor: Manuel Diaz Curiel Copyright © 2011 I. Mouna Ben Amor et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Osteogenesis imperfecta, discussed in Baldridge et al. 2008 is an inherited bone fragility disorder with a wide range of clinical severity that in the majority of cases is caused by mutations in COL1A1 or COL1A2, the genes that encode the two collagen type I alpha chains. Here we describe genotype-phenotype correlations in OI patients who have mutations affecting collagen type I. This paper is based on findings in a large single-centre OI population and a review of the literature. 1. Introduction severe form of OI with multiple fractures, mild to moderate bone deformities, and variable short stature. Sclerae in this Osteogenesis imperfecta [1] is a heritable skeletal disorder type are white or grey and DI is not a constant feature. characterized by bone fragility and often short stature. Even though this classification is widely used, it is Extraskeletal features incl