A novel mutation in <i>COL3A1</i> associates to vascular Ehlers–Danlos syndrome with predominant musculoskeletal involvement

Ruscitti, Federica; Trevisan, Lucia; Rosti, Giulia; Gotta, Fabio; Cianflone, Annalia; Geroldi, Alessandro; Origone, Paola; Pichiecchio, Anna; Viglio, Simona; Iascone, Maria; Mandich, Paola

doi:10.1002/mgg3.1753

Cited by 6 publications

(5 citation statements)

References 19 publications

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“…EDS is classified into 13 different subtypes, among which the vascular type (type IV) is the most severe and lifethreatening, with arterial ruptures or dissections responsible for the majority of deaths. These events are unpredictable, and the fragility of the arterial walls often makes surgical repair difficult (Ruscitti et al, 2021).…”

Section: Discussionmentioning

confidence: 99%

Ehlers-Danlos syndrome: From bedside to bench

2024

Frontiers Research Topics

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Frontiers is more than just an open access publisher of scholarly articles: it is a pioneering approach to the world of academia, radically improving the way scholarly research is managed. The grand vision of Frontiers is a world where all people have an equal opportunity to seek, share and generate knowledge. Frontiers provides immediate and permanent online open access to all its publications, but this alone is not enough to realize our grand goals. Frontiers journal seriesThe Frontiers journal series is a multi-tier and interdisciplinary set of openaccess, online journals, promising a paradigm shift from the current review, selection and dissemination processes in academic publishing. All Frontiers journals are driven by researchers for researchers; therefore, they constitute a service to the scholarly community. At the same time, the Frontiers journal series operates on a revolutionary invention, the tiered publishing system, initially addressing specific communities of scholars, and gradually climbing up to broader public understanding, thus serving the interests of the lay society, too. Dedication to qualityEach Frontiers article is a landmark of the highest quality, thanks to genuinely collaborative interactions between authors and review editors, who include some of the world's best academicians. Research must be certified by peers before entering a stream of knowledge that may eventually reach the public -and shape society; therefore, Frontiers only applies the most rigorous and unbiased reviews. Frontiers revolutionizes research publishing by freely delivering the most outstanding research, evaluated with no bias from both the academic and social point of view. By applying the most advanced information technologies, Frontiers is catapulting scholarly publishing into a new generation. What are Frontiers Research Topics?Frontiers Research Topics are very popular trademarks of the Frontiers journals series: they are collections of at least ten articles, all centered on a particular subject. With their unique mix of varied contributions from Original Research to Review Articles, Frontiers Research Topics unify the most influential researchers, the latest key findings and historical advances in a hot research area.

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Section: Discussionmentioning

confidence: 99%

Ehlers-Danlos syndrome: From bedside to bench

2024

Frontiers Research Topics

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“…EDS is classified into 13 different subtypes, among which the vascular type (type IV) is the most severe and life-threatening, with arterial ruptures or dissections responsible for the majority of deaths. These events are unpredictable, and the fragility of the arterial walls often makes surgical repair difficult ( Ruscitti et al, 2021 ).…”

Section: Discussionmentioning

confidence: 99%

Importance of comprehensive genetic testing for patients with suspected vascular Ehlers–Danlos syndrome: a family case report and literature review

Wei,

Zhou,

Xie

et al. 2023

Front. Genet.

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Vascular Ehlers–Danlos syndrome (vEDS), the most severe type of Ehlers–Danlos syndrome, is caused by an autosomal-dominant defect in the COL3A1 gene. In this report, we describe the clinical history, specific phenotype, and genetic diagnosis of a man who died of vEDS. The precise diagnosis of this case using whole-exome sequencing provided solid evidence for the cause of death, demonstrating the practical value of genetic counseling and analysis. Early diagnosis for the proband’s son, who was also affected by vEDS, revealed initial complications of vEDS in early childhood, which have rarely been reported. We also reviewed the literature on COL3A1 missense mutations and related phenotypes. We identified an association between digestion tract events and non-glycine missense variants, which disproves a previous hypothesis regarding the genotype–phenotype correlation of vEDS. Our results demonstrate the necessity of offering comprehensive genetic testing for every patient suspected of having vEDS.

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“…The human COL3A1 gene comprises 51 exons and encodes the pro-alpha1 chains of type III collagen. Type III collagen constitutes about 5–20% of the entire collagen content in the human body that is found in extensible connective tissues such as the lung, skin, and the vascular system ( Ruscitti et al, 2021 ). The first mutation of COL3A1 was described in an inherited Ehlers-Danlos syndrome type IV patient in 1988 ( Superti-Furga et al, 1988 ).…”

Section: Discussionmentioning

confidence: 99%

Whole-Exome Sequencing Identified Genes Responsible for Thoracic Aortic Aneurysms and Dissections in three Chinese Families

Guo

Pei

et al. 2022

Front. Genet.

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Thoracic aortic aneurysms and dissections are precarious conditions that often cannot be diagnosed with fatal outcomes. Over the last few years, pathogenic variants in numerous genes have been identified that predispose to heritable presentations of TAAD. An evidence-based strategy for the selection of genes to test in familial TAAD helps inform family screening and intervention to prevent life-threatening events. Using whole-exome sequencing, four members of three unrelated families clinically diagnosed with TAAD were used to identify the genetic origin of the disorder. Variant evaluation was carried out to detect the pathogenic mutation. Our studies suggest that mutations of COL3A1 and ACTA2 are responsible for familial TAAD. In addition, we highlight FBLN5, FBN1, SLC2A10, FBN2, and NOTCH1 as candidate genes. Future studies of crosstalk among the pathways may provide us a step toward understanding the pathogenic mechanism. This finding indicates the necessity of obtaining family medical history and screening of extended relatives of patients with TAAD for the early identification and treatment of TAAD.

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A novel mutation in COL3A1 associates to vascular Ehlers–Danlos syndrome with predominant musculoskeletal involvement

Cited by 6 publications

References 19 publications

Ehlers-Danlos syndrome: From bedside to bench

Ehlers-Danlos syndrome: From bedside to bench

Importance of comprehensive genetic testing for patients with suspected vascular Ehlers–Danlos syndrome: a family case report and literature review

Whole-Exome Sequencing Identified Genes Responsible for Thoracic Aortic Aneurysms and Dissections in three Chinese Families

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