Childhood Osteoporosis and Presentation of Two Cases with Osteogenesis Imperfecta Type V.

ABSTRACT:

Introduction

Osteogenesis imperfecta (OI) is etiologically heterogeneous disorder characterized by childhood osteoporosis. A subtype OI type V is caused by the same c.-14C>T mutation in the IFITM5 gene. Nevertheless, there is a marked interindividual phenotypic variability in clinical presentation; however, response to bisphosphonates is reported to be good.

Methods

Two individuals with OI type V had multiple recurrent fractures with hypertrophic calluses, scoliosis and ossifications of the forearm interosseous membranes. Sequencing of IFITM5, genotyping of variants rs2297480 in farnesyl diphosphate synthase gene (FDPS), and rs3840452 in geranylgeranyl diphosphate synthase 1 gene (GGPS1), both involved in bisphosphonate metabolism, was performed.

Results

In patient 1

SUBMITTER: Bratanic N 

PROVIDER: S-EPMC4820164 | biostudies-literature | 2015 Jun

REPOSITORIES: biostudies-literature