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COL1-Related Disorders: Case Report and Review of Overlapping Syndromes

Collagen type I mutations are related to wide phenotypic expressions frequently causing an overlap of clinical manifestations, in particular between Osteogenesis Imperfecta (OI) and Ehlers-Danlos syndrome (EDS). Both disorders present inter- and intra-familial clinical variability and several clinic...

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Autores principales: Gnoli, Maria, Brizola, Evelise, Tremosini, Morena, Pedrini, Elena, Maioli, Margherita, Mosca, Massimiliano, Bassotti, Alessandra, Castronovo, Paola, Giunta, Cecilia, Sangiorgi, Luca
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8138308/
https://www.ncbi.nlm.nih.gov/pubmed/34025714
http://dx.doi.org/10.3389/fgene.2021.640558
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author Gnoli, Maria
Brizola, Evelise
Tremosini, Morena
Pedrini, Elena
Maioli, Margherita
Mosca, Massimiliano
Bassotti, Alessandra
Castronovo, Paola
Giunta, Cecilia
Sangiorgi, Luca
author_facet Gnoli, Maria
Brizola, Evelise
Tremosini, Morena
Pedrini, Elena
Maioli, Margherita
Mosca, Massimiliano
Bassotti, Alessandra
Castronovo, Paola
Giunta, Cecilia
Sangiorgi, Luca
author_sort Gnoli, Maria
collection PubMed
description Collagen type I mutations are related to wide phenotypic expressions frequently causing an overlap of clinical manifestations, in particular between Osteogenesis Imperfecta (OI) and Ehlers-Danlos syndrome (EDS). Both disorders present inter- and intra-familial clinical variability and several clinical signs are present in both diseases. Recently, after the observation that some individuals first ascertained by a suspicion of EDS resulted then carriers of pathogenic variants of genes known to primarily cause OI, some authors proposed the term “COL1-related overlap disorder” to describe these cases. In this paper, we report clinical, molecular, and biochemical information about an individual with a diagnosis of EDS with severe joint hypermobility who carries a pathogenic heterozygous variant in COL1A2 gene, and a benign variant in COL1A1 gene. The pathogenic variant, commonly ascribed to OI, as well as the benign variant, has been inherited from the individual's mother, who presented only mild signs of OI and the diagnosis of OI was confirmed only after molecular testing. In addition, we reviewed the literature of similar cases of overlapping syndromes caused by COL1 gene mutations. The reported case and the literature review suggest that the COL1-related overlap disorders (OI, EDS and overlapping syndromes) represent a continuum of clinical phenotypes related to collagen type I mutations. The spectrum of COL1-related clinical manifestations, the pathophysiology and the underlying molecular mechanisms support the adoption of the updated proposed term “COL1-related overlap disorder” to describe the overlapping syndromes.
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spelling pubmed-81383082021-05-22 COL1-Related Disorders: Case Report and Review of Overlapping Syndromes Gnoli, Maria Brizola, Evelise Tremosini, Morena Pedrini, Elena Maioli, Margherita Mosca, Massimiliano Bassotti, Alessandra Castronovo, Paola Giunta, Cecilia Sangiorgi, Luca Front Genet Genetics Collagen type I mutations are related to wide phenotypic expressions frequently causing an overlap of clinical manifestations, in particular between Osteogenesis Imperfecta (OI) and Ehlers-Danlos syndrome (EDS). Both disorders present inter- and intra-familial clinical variability and several clinical signs are present in both diseases. Recently, after the observation that some individuals first ascertained by a suspicion of EDS resulted then carriers of pathogenic variants of genes known to primarily cause OI, some authors proposed the term “COL1-related overlap disorder” to describe these cases. In this paper, we report clinical, molecular, and biochemical information about an individual with a diagnosis of EDS with severe joint hypermobility who carries a pathogenic heterozygous variant in COL1A2 gene, and a benign variant in COL1A1 gene. The pathogenic variant, commonly ascribed to OI, as well as the benign variant, has been inherited from the individual's mother, who presented only mild signs of OI and the diagnosis of OI was confirmed only after molecular testing. In addition, we reviewed the literature of similar cases of overlapping syndromes caused by COL1 gene mutations. The reported case and the literature review suggest that the COL1-related overlap disorders (OI, EDS and overlapping syndromes) represent a continuum of clinical phenotypes related to collagen type I mutations. The spectrum of COL1-related clinical manifestations, the pathophysiology and the underlying molecular mechanisms support the adoption of the updated proposed term “COL1-related overlap disorder” to describe the overlapping syndromes. Frontiers Media S.A. 2021-05-07 /pmc/articles/PMC8138308/ /pubmed/34025714 http://dx.doi.org/10.3389/fgene.2021.640558 Text en Copyright © 2021 Gnoli, Brizola, Tremosini, Pedrini, Maioli, Mosca, Bassotti, Castronovo, Giunta and Sangiorgi. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Genetics
Gnoli, Maria
Brizola, Evelise
Tremosini, Morena
Pedrini, Elena
Maioli, Margherita
Mosca, Massimiliano
Bassotti, Alessandra
Castronovo, Paola
Giunta, Cecilia
Sangiorgi, Luca
COL1-Related Disorders: Case Report and Review of Overlapping Syndromes
title COL1-Related Disorders: Case Report and Review of Overlapping Syndromes
title_full COL1-Related Disorders: Case Report and Review of Overlapping Syndromes
title_fullStr COL1-Related Disorders: Case Report and Review of Overlapping Syndromes
title_full_unstemmed COL1-Related Disorders: Case Report and Review of Overlapping Syndromes
title_short COL1-Related Disorders: Case Report and Review of Overlapping Syndromes
title_sort col1-related disorders: case report and review of overlapping syndromes
topic Genetics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8138308/
https://www.ncbi.nlm.nih.gov/pubmed/34025714
http://dx.doi.org/10.3389/fgene.2021.640558
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