[Osteogenesis imperfecta].

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Abstract

[Indexed for MEDLINE] 5. World J Clin Cases. 2023 Apr 26;11(12):2604-2620. doi: 10.12998/wjcc.v11.i12.2604. Classification of osteogenesis imperfecta: Importance for prophylaxis and genetic counseling. Panzaru MC(1), Florea A(2), Caba L(1), Gorduza EV(1). Author information: (1)Department of Medical Genetics, Faculty of Medicine, "Grigore T. Popa" University of Medicine and Pharmacy, Iasi 700115, Romania. (2)Department of Medical Genetics - Medical Genetics resident, "Grigore T. Popa" University of Medicine and Pharmacy, Iasi 700115, Romania. andreeaflorea97@gmail.com. Osteogenesis imperfecta (OI) is a genetically heterogeneous monogenic disease characterized by decreased bone mass, bone fragility, and recurrent fractures. The phenotypic spectrum varies considerably ranging from prenatal fractures with lethal outcomes to mild forms with few fractures and normal stature. The basic mechanism is a collagen-related defect, not only in synthesis but also in folding, processing, bone mineralization, or osteoblast function. In recent years, great progress has been made in identifying new genes and molecular mechanisms underlying OI. In this context, the classification of OI has been revised several times and different types are used. The Sillence classification, based on clinical and radiological characteristics, is currently used as a grading of clinical severity. Based on the metabolic pathway, the functional classification allows identifying regulatory elements and targeting specific therapeutic approaches. Genetic classification has the advantage of identifying the inheritance pattern, an essential element for genetic counseling and prophylaxis. Although genotype-phenotype correlations may sometimes be challenging, genetic diagnosis allows a personalized management strategy, accurate family planning, and pregnancy management decisions including options for mode of delivery, or early antenatal OI treatment. Future research on molecular pathways and pathogenic variants involved could lead to the development of genotype-based therapeutic approaches. This narrative review summarizes our current understanding of genes, molecular mechanisms involved in OI, classifications, and their utility in prophylaxis. ©The Author(s) 2023. Published by Baishideng Publishing Group Inc. All rights reserved. DOI: 10.12998/wjcc.v11.i12.2604 PMCID: PMC10198117