Classification of osteogenesis imperfecta: Importance for prophylaxis and genetic counseling.

Journal and index pages often block iframe embedding. This reader keeps the evidence details in Orthonotes and leaves the source page one click away.

Abstract

Conflict of interest statement: Conflict-of-interest statement: All the authors report no relevant conflicts of interest for this article. 6. Calcif Tissue Int. 2024 Dec;115(6):873-890. doi: 10.1007/s00223-024-01248-7. Epub 2024 Jun 28. A Dyadic Nosology for Osteogenesis Imperfecta and Bone Fragility Syndromes 2024. Sillence DO(1)(2). Author information: (1)Specialities of Genomic Medicine and Paediatrics and Adolescent Health, Children's Hospital Westmead, Sydney University Clinical School, Westmead, NSW, 2145, Australia. david.sillence@sydney.edu.au. (2)Department of Genetic Medicine, Honorary Emeritus Consultant, Westmead Hospital, Westmead, NSW, 2145, Australia. david.sillence@sydney.edu.au. In 2023 following extensive consultation with key stakeholders, the expert Nosology Working Group of the International Skeletal Dysplasia Society (ISDS) published the new Dyadic Nosology for Genetic Disorders of the Skeleton. Some 770 entities were delineated associated with 552 genes. From these entities, over 40 genes resulting in distinct forms of Osteogenesis Imperfecta (OI) and Bone Fragility and/or Familial Osteoporosis were identified. To assist clinicians and lay stake holders and bring the considerable body of knowledge of the matrix biology and genomics to people with OI as well as to clinicians and scientists, a dyadic nosology has been recommended. This combines a genomic co-descriptor with a phenotypic naming based on the widely used Sillence nosology for the OI syndromes and the many other syndromes characterized in part by bone fragility.This review recapitulates and explains the evolution from the simple Congenita and Tarda subclassification of OI in the 1970 nosology, which was replaced by the Sillence types I-IV nosology which was again replaced in 2009 with 5 clinical groups, type 1 to 5. Qualitative and quantitative defects in type I collagen polypeptides were postulated to account for the genetic heterogeneity in OI for nearly 30 years, when OI type 5, a non-collagen disorder was recognized. Advances in matrix biology and genomics since that time have confirmed a surprising complexity both in transcriptional as well as post-translational mechanisms of collagens as well as in the many mechanisms of calcified tissue homeostasis and integrity. © 2024. The Author(s). DOI: 10.1007/s00223-024-01248-7 PMCID: PMC11607092