Letter to the editor: Re: Pathogenic mechanisms of osteogenesis imperfecta, evidence for classification

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Abstract

A paper published in Orphanet Journal of Rare Diseases proposes a new classification of osteogenesis imperfecta (OI) based upon underlying pathological mechanisms. The proposed numbering of OI types conflicts with the currently used numbering and is likely to lead to confusion. In addition, classification of OI according to underlying pathogenic mechanisms is not novel.

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Genetic heterogeneity in osteogenesis imperfecta.

D Sillence, A Senn, D M Danks (1979)

An epidemiological and genetical study of osteogenesis imperfecta (OI) in Victoria, Australia confirmed that there are at least four distinct syndromes at present called OI. The largest group of patients showed autosomal dominant inheritance of osteoporosis leading to fractures and distinctly blue sclerae. A large proportion of adults had presenile deafness or a family history of presenile conductive hearing loss. A second group, who comprised the majority of newborns with neonatal fractures, all died before or soon after birth. These had characteristic broad, crumpled femora and beaded ribs in skeletal x-rays. Autosomal recessive inheritance was likely for some, if not all, of these cases. A third group, two thirds of whom had fractures at birth, showed severe progressive deformity of limbs and spine. The density of scleral blueness appeared less than that seen in the first group of patients and approximated that seen in normal children and adults. Moreover, the blueness appeared to decrease with age. All patients in this group were sporadic cases. The mode of inheritance was not resolved by the study, but it is likely that the group is heterogeneous with both dominant and recessive genotypes responsible for the syndrome. The fourth group of patients showed dominant inheritance of osteoporosis leading to fractures, with variable deformity of long bones, but normal sclerae.

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Nosology and Classification of Genetic Skeletal Disorders: 2010 Revision

Matthew Warman, Valerie Cormier-Daire, Christine Hall … (2011)

Genetic disorders involving the skeletal system arise through disturbances in the complex processes of skeletal development, growth and homeostasis and remain a diagnostic challenge because of their variety. The Nosology and Classification of Genetic Skeletal Disorders provides an overview of recognized diagnostic entities and groups them by clinical and radiographic features and molecular pathogenesis. The aim is to provide the Genetics, Pediatrics and Radiology community with a list of recognized genetic skeletal disorders that can be of help in the diagnosis of individual cases, in the delineation of novel disorders, and in building bridges between clinicians and scientists interested in skeletal biology. In the 2010 revision, 456 conditions were included and placed in 40 groups defined by molecular, biochemical, and/or radiographic criteria. Of these conditions, 316 were associated with mutations in one or more of 226 different genes, ranging from common, recurrent mutations to “private” found in single families or individuals. Thus, the Nosology is a hybrid between a list of clinically defined disorders, waiting for molecular clarification, and an annotated database documenting the phenotypic spectrum produced by mutations in a given gene. The Nosology should be useful for the diagnosis of patients with genetic skeletal diseases, particularly in view of the information flood expected with the novel sequencing technologies; in the delineation of clinical entities and novel disorders, by providing an overview of established nosologic entities; and for scientists looking for the clinical correlates of genes, proteins and pathways involved in skeletal biology. © 2011 Wiley-Liss, Inc.

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Osteogenesis imperfecta: Clinical diagnosis, nomenclature and severity assessment

FS Van Dijk, DO Sillence (2014)

Recently, the genetic heterogeneity in osteogenesis imperfecta (OI), proposed in 1979 by Sillence et al., has been confirmed with molecular genetic studies. At present, 17 genetic causes of OI and closely related disorders have been identified and it is expected that more will follow. Unlike most reviews that have been published in the last decade on the genetic causes and biochemical processes leading to OI, this review focuses on the clinical classification of OI and elaborates on the newly proposed OI classification from 2010, which returned to a descriptive and numerical grouping of five OI syndromic groups. The new OI nomenclature and the pre-and postnatal severity assessment introduced in this review, emphasize the importance of phenotyping in order to diagnose, classify, and assess severity of OI. This will provide patients and their families with insight into the probable course of the disorder and it will allow physicians to evaluate the effect of therapy. A careful clinical description in combination with knowledge of the specific molecular genetic cause is the starting point for development and assessment of therapy in patients with heritable disorders including OI. © 2014 The Authors. American Journal of Medical Genetics Published by Wiley Periodicals, Inc. This is an open access article under the terms of the Creative Commons Attribution–NonCommercial–NoDerivs License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non-commercial and no modifications or adaptations are made.

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Author and article information

Contributors

Raymond Dalgleish:

ORCID: http://orcid.org/0000-0001-7667-187X

raymond.dalgleish@leicester.ac.uk

Journal

Journal ID (nlm-ta): Orphanet J Rare Dis

Journal ID (iso-abbrev): Orphanet J Rare Dis

Title: Orphanet Journal of Rare Diseases

Publisher: BioMed Central (London )

ISSN (Electronic): 1750-1172

Publication date (Electronic): 19 July 2024

Publication date PMC-release: 19 July 2024

Publication date Collection: 2024

Volume: 19

Electronic Location Identifier: 272

Affiliations

[1 ]Department of Genetics and Genome Biology, University of Leicester, ( https://ror.org/04h699437) Leicester, UK

[2 ]Department of Human Genetics, Amsterdam Reproduction and Development, Amsterdam Movement Sciences, Amsterdam UMC, ( https://ror.org/05grdyy37) Amsterdam, The Netherlands

[3 ]University of Lausanne and Genetica AG, ( https://ror.org/019whta54) Lausanne, Switzerland

[4 ]North West Thames Regional Genetics Service, London North West University Health Care NHS Trust, ( https://ror.org/04cntmc13) Harrow, UK

[5 ]Department of Metabolism, Digestion and Reproduction, Section of Genetics and Genomics, Imperial College London, ( https://ror.org/041kmwe10) London, UK

[6 ]Genomic Medicine and Paediatrics & Adolescent Health, Sydney University Clinical School, Children’s Hospital, Westmead, NSW Australia

Author information

Raymond Dalgleish http://orcid.org/0000-0001-7667-187X

Dimitra Micha https://orcid.org/0000-0001-7890-4411

Andrea Superti-Furga https://orcid.org/0000-0002-3543-7531

Fleur S. van Dijk https://orcid.org/0000-0001-6341-169X

David O. Sillence https://orcid.org/0000-0002-5638-2998

Article

Publisher ID: 3269

DOI: 10.1186/s13023-024-03269-9

PMC ID: 11264877

PubMed ID: 39030555

SO-VID: 8e2185b9-e947-47f0-b5b2-19eec272074f

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Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. The Creative Commons Public Domain Dedication waiver ( http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data.

History

Date received : 16 October 2023

Date accepted : 1 July 2024

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ScienceOpen disciplines: Infectious disease & Microbiology

Keywords: osteogenesis imperfecta,nosology,classification

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ScienceOpen disciplines: Infectious disease & Microbiology

Keywords: osteogenesis imperfecta, nosology, classification

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Letter to the editor: Re: Pathogenic mechanisms of osteogenesis imperfecta, evidence for classification

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Most cited references 8

Genetic heterogeneity in osteogenesis imperfecta.

Nosology and Classification of Genetic Skeletal Disorders: 2010 Revision

Osteogenesis imperfecta: Clinical diagnosis, nomenclature and severity assessment

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