Journal article

Identification of Two Independent COL5A1 Variants in Dogs with Ehlers-Danlos Syndrome

Anina Bauer, John F Bateman, Shireen R Lamande, Eric Hanssen, Shannon GM Kirejczyk, Mark Yee, Ali Ramiche, Vidyha Jagannathan, Monika Welle, Tosso Leeb, Fiona L Bateman

Genes | MDPI | Published : 2019

Abstract

The Ehlers-Danlos syndromes (EDS) are a heterogeneous group of heritable disorders affecting connective tissues. The mutations causing the various forms of EDS in humans are well characterized, but the genetic mutations causing EDS-like clinical pathology in dogs are not known, thus hampering accurate clinical diagnosis. Clinical analysis of two independent cases of skin hyperextensibility and fragility, one with pronounced joint hypermobility was suggestive of EDS. Whole-genome sequencing revealed de novo mutations of COL5A1 in both cases, confirming the diagnosis of the classical form of EDS. The heterozygous COL5A1 p.Gly1013ValfsTer260 mutation characterized in case 1 introduced a prematu..

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Grants

Awarded by Swiss National Science Foundation


Funding Acknowledgements

This study was funded in part by a grant of the Swiss National Science Foundation (CRSII3_160738) for genomic analysis and interpretation of data and by funding to the Murdoch Children's Research Institute from the Victorian Government's Operational Infrastructure Support Program for sample collection and biochemical analysis.