A COL5A2 In-Frame Deletion in a Chihuahua with Ehlers-Danlos Syndrome

Ehlers-Danlos syndrome (EDS) is a group of heterogeneous, rare diseases affecting the connective tissues. The main clinical signs of EDS are skin hyperextensibility, joint hypermobility, and skin fragility. Currently, the classification of EDS in humans distinguishes 13 clinical subtypes associated...

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Bibliographic Details
Published in:Genes 2022-05, Vol.13 (5), p.934
Main Authors: Kiener, Sarah, Chevallier, Lucie, Jagannathan, Vidhya, Briand, Amaury, Cochet-Faivre, Noëlle, Reyes-Gomez, Edouard, Leeb, Tosso
Format: Article
Language:English
Subjects:
Animal biology
Animals
Collagen
Connective tissue diseases
Connective tissues
Dermis
Dogs
Ehlers-Danlos syndrome
Gene deletion
Genes
Genetic diversity
Genomes
Genotype & phenotype
Hernias
Life Sciences
Phenotypes
Proteins
Rare diseases
Skin
Veterinary medicine and animal Health
Whole genome sequencing
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Summary:Ehlers-Danlos syndrome (EDS) is a group of heterogeneous, rare diseases affecting the connective tissues. The main clinical signs of EDS are skin hyperextensibility, joint hypermobility, and skin fragility. Currently, the classification of EDS in humans distinguishes 13 clinical subtypes associated with variants in 20 different genes, reflecting the heterogeneity of this set of diseases. At present, variants in three of these genes have also been identified in dogs affected by EDS. The purpose of this study was to characterize the clinical and histopathological phenotype of an EDS-affected Chihuahua and to identify the causative genetic variant for the disease. The clinical examination suggested a diagnosis of classical EDS. Skin histopathology revealed an abnormally thin dermis, which is compatible with classical EDS. Whole-genome sequencing identified a heterozygous de novo 27 bp deletion in the gene, :c.3388_3414del. The in-frame deletion is predicted to remove 9 amino acids in the triple-helical region of COL5A2. The molecular analysis and identification of a likely pathogenic variant in confirmed the subtype as a form of classical EDS. This is the first report of a -related EDS in a dog.
ISSN:2073-4425
2073-4425
DOI:10.3390/genes13050934