Osteogenesis imperfecta: Strengthening knowledge of bones and genes

Abstract

Twenty-two disorders associated with recurrent fractures and decreased bone density caused by 20 genes are grouped under osteogenesis imperfecta. Identification of causative genes has strengthened the understanding of bone formation and mineralization. The mode of inheritance can be autosomal dominant, recessive, or X-linked. Genetic diagnosis is essential for genetic counseling. The presentation can be from fetal life to adult life, and suspicion in appropriate clinical settings is essential for ordering the investigations. This challenging task of identifying the causative genetic variant of such an etiologically heterogeneous group of disorders is simplified by the high throughput sequencing technique of next-generation sequencing. In this era, each case needs to be diagnosed by DNA-based methods. Genetic counseling and prenatal diagnosis are important parts of management. The evolving novel therapies are likely to be specific to the disease mechanisms and will supplement the current treatment with bisphosphonates and better outcomes are expected in the future.