Work

Phenotypic Variability in Individuals With Type V Osteogenesis Imperfecta With Identical Ifitm5 Mutations.

Year: 2013

Type: article

Abstract: BACKGROUND: gene was found to be responsible for OI type V. This mutation, a C to T transition 14 nucleotides upstream from the endogenous start codon, creates a new start methionine that appears to be preferentially used by the translational machinery. However, the mechanism by which the lengthened protein results in a dominant type of OI is unknown. METHODS AND RESULTS: variant, further supporting the notion that OI type V is caused by a single, discrete mutation. Our patient cohort demonstrated inter-and intrafamilial phenotypic variability, including a father with classic OI type V whose daughter had a phenotype similar to OI type I. This clinical variability suggests that modifier genes influence the OI type V phenotype. We also confirm that the mutation creates an aberrant IFITM5 protein containing an additional 5 amino acids at the N-terminus. CONCLUSIONS: mutation. The affected individuals are more ethnically diverse than previously reported.

Source: PubMed