COL1-Related Disorders: Case Report and Review of Overlapping Syndromes.
COL1
clinical signs
collagen
collagen type I
musculoskeletal diseases
overlap
rare diseases
Journal
Frontiers in genetics
ISSN: 1664-8021
Titre abrégé: Front Genet
Pays: Switzerland
ID NLM: 101560621
Informations de publication
Date de publication:
2021
2021
Historique:
received:
11
12
2020
accepted:
08
04
2021
entrez:
24
5
2021
pubmed:
25
5
2021
medline:
25
5
2021
Statut:
epublish
Résumé
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
Identifiants
pubmed: 34025714
doi: 10.3389/fgene.2021.640558
pmc: PMC8138308
doi:
Types de publication
Case Reports
Langues
eng
Pagination
640558Informations de copyright
Copyright © 2021 Gnoli, Brizola, Tremosini, Pedrini, Maioli, Mosca, Bassotti, Castronovo, Giunta and Sangiorgi.
Déclaration de conflit d'intérêts
The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. The reviewer FM declared a past co-authorship with one of the authors CG to the handling editor.
Références
Hum Mutat. 2007 Apr;28(4):396-405
pubmed: 17206620
Clin Genet. 2017 Mar;91(3):411-425
pubmed: 27582382
Biosci Rep. 2019 Jul 25;39(7):
pubmed: 31239369
J Biol Chem. 2005 May 13;280(19):19259-69
pubmed: 15728585
Genet Med. 2015 May;17(5):405-24
pubmed: 25741868
Am J Med Genet A. 2017 Apr;173(4):1047-1050
pubmed: 28261977
J Med Genet. 2001 Feb;38(2):132-6
pubmed: 11288717
Clin Genet. 2020 Mar;97(3):396-406
pubmed: 31794058
Hum Mutat. 2007 Apr;28(4):387-95
pubmed: 17211858
Eur J Hum Genet. 1997 May-Jun;5(3):161-7
pubmed: 9272740
J Endocrinol Invest. 2006 Jul-Aug;29(7):581-93
pubmed: 16957405
Am J Med Genet A. 2017 Feb;173(2):524-530
pubmed: 28102596
Bone. 2019 Apr;121:191-195
pubmed: 30684648
Am J Med Genet A. 2014 Jun;164A(6):1470-81
pubmed: 24715559
J Med Genet. 2004 Jul;41(7):e96
pubmed: 15235039
J Mol Biol. 1994 Feb 25;236(3):940-9
pubmed: 8114103
Genet Med. 2011 Feb;13(2):125-30
pubmed: 21239989
Am J Med Genet. 1997 Oct 3;72(1):94-105
pubmed: 9295084
Intractable Rare Dis Res. 2018 Feb;7(1):37-41
pubmed: 29552444
Calcif Tissue Int. 2018 Mar;102(3):373-379
pubmed: 29101475
Orphanet J Rare Dis. 2013 May 21;8:78
pubmed: 23692737
Genes (Basel). 2019 Nov 25;10(12):
pubmed: 31775249
Hum Mutat. 2007 Mar;28(3):209-21
pubmed: 17078022
Intractable Rare Dis Res. 2015 Feb;4(1):49-53
pubmed: 25674388
Eur J Med Genet. 2020 Feb;63(2):103730
pubmed: 31323331
Clin Genet. 2008 Jan;73(1):97-101
pubmed: 18028452
Eur J Hum Genet. 2019 Jul;27(7):1090-1100
pubmed: 30886339
Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):8-26
pubmed: 28306229
Am J Med Sci. 2008 Jul;336(1):70-2
pubmed: 18626241
Lancet. 2016 Apr 16;387(10028):1657-71
pubmed: 26542481
Lancet. 2004 Apr 24;363(9418):1377-85
pubmed: 15110498
Bioinformatics. 2019 Jun 1;35(11):1978-1980
pubmed: 30376034
Genes Dis. 2019 Mar 16;6(2):138-146
pubmed: 31193991