Molecular Outcome, Prediction, and Clinical Consequences of Splice Variants inCOL1A1, Which Encodes the proα1(I) Chains of Type I Procollagen

Approximately 10%-20% of germline pathogenic variants alter mRNA splicing, with phenotypes often dependent on the stability of the mRNA produced by the mutant allele. To better understand the relationships between genotype, mRNA splicing, and phenotype, we examined clinical and molecular data from 243 probands with osteogenesis imperfecta (OI) representing 145 unique splicing variants within the type I procollagen gene, COL1A1. All individuals...