Osteogenesis imperfecta

Summary Osteogenesis imperfecta is a phenotypically and molecularly heterogeneous group of inherited connective tissue disorders that share similar skeletal abnormalities causing bone fragility and deformity. Previously, the disorder was thought to be an autosomal dominant bone dysplasia caused by d...

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Veröffentlicht in:The Lancet (British edition) 2016-04, Vol.387 (10028), p.1657-1671
Hauptverfasser: Forlino, Antonella, PhD, Marini, Joan C, Dr
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creator Forlino, Antonella, PhD
Marini, Joan C, Dr
description Summary Osteogenesis imperfecta is a phenotypically and molecularly heterogeneous group of inherited connective tissue disorders that share similar skeletal abnormalities causing bone fragility and deformity. Previously, the disorder was thought to be an autosomal dominant bone dysplasia caused by defects in type I collagen, but in the past 10 years discoveries of novel (mainly recessive) causative genes have lent support to a predominantly collagen-related pathophysiology and have contributed to an improved understanding of normal bone development. Defects in proteins with very different functions, ranging from structural to enzymatic and from intracellular transport to chaperones, have been described in patients with osteogenesis imperfecta. Knowledge of the specific molecular basis of each form of the disorder will advance clinical diagnosis and potentially stimulate targeted therapeutic approaches. In this Seminar, together with diagnosis, management, and treatment, we describe the defects causing osteogenesis imperfecta and their mechanism and interrelations, and classify them into five groups on the basis of the metabolic pathway compromised, specifically those related to collagen synthesis, structure, and processing; post-translational modification; folding and cross-linking; mineralisation; and osteoblast differentiation.
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subjects Bone Density Conservation Agents - therapeutic use
Bone diseases
Bones
Calcification, Physiologic - genetics
Cell Differentiation - genetics
Collagen
Collagen Type I - genetics
Disease Management
Endoplasmic reticulum
Extracellular matrix
Fractures
Genes
Genetic Predisposition to Disease
Humans
Internal Medicine
Mineralization
Mutation
Osteoblasts - pathology
Osteogenesis - genetics
Osteogenesis Imperfecta - diagnosis
Osteogenesis Imperfecta - genetics
Osteogenesis Imperfecta - therapy
Protein Processing, Post-Translational - genetics
Proteins
title Osteogenesis imperfecta
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