Next Article in Journal
Diagnosis and Prediction of Endometrial Carcinoma Using Machine Learning and Artificial Neural Networks Based on Public Databases
Previous Article in Journal
Complete Chloroplast Genome Sequence of Triosteum sinuatum, Insights into Comparative Chloroplast Genomics, Divergence Time Estimation and Phylogenetic Relationships among Dipsacales
Article

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

1
Institute of Genetics, Vetsuisse Faculty, University of Bern, 3001 Bern, Switzerland
2
Dermfocus, University of Bern, 3001 Bern, Switzerland
3
“Biology of the Neuromuscular System” Team, INSERM, IMRB, Univ Paris-Est Créteil, Ecole Nationale Vétérinaire d’Alfort, 94700 Maisons-Alfort, France
4
Unité de Dermatologie, ChuvA, Ecole Nationale Vétérinaire d’Alfort, 94700 Maisons-Alfort, France
5
Unité d’Histologie et d’Anatomie Pathologique, BioPôle Alfort, Ecole Nationale Vétérinaire d’Alfort, 94700 Maisons-Alfort, France
*
Author to whom correspondence should be addressed.
These authors contributed equally to this work.
Academic Editor: Dayna Dreger
Genes 2022, 13(5), 934; https://doi.org/10.3390/genes13050934
Received: 2 May 2022 / Revised: 19 May 2022 / Accepted: 19 May 2022 / Published: 23 May 2022
(This article belongs to the Special Issue Advances in Canine Genetics)
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 COL5A2 gene, COL5A2: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 COL5A2 confirmed the subtype as a form of classical EDS. This is the first report of a COL5A2-related EDS in a dog. View Full-Text
Keywords: Canis lupus familiaris; dog; dermatology; genodermatosis; skin; precision medicine; animal model Canis lupus familiaris; dog; dermatology; genodermatosis; skin; precision medicine; animal model
Show Figures

Figure 1

MDPI and ACS Style

Kiener, S.; Chevallier, L.; Jagannathan, V.; Briand, A.; Cochet-Faivre, N.; Reyes-Gomez, E.; Leeb, T. A COL5A2 In-Frame Deletion in a Chihuahua with Ehlers-Danlos Syndrome. Genes 2022, 13, 934. https://doi.org/10.3390/genes13050934

AMA Style

Kiener S, Chevallier L, Jagannathan V, Briand A, Cochet-Faivre N, Reyes-Gomez E, Leeb T. A COL5A2 In-Frame Deletion in a Chihuahua with Ehlers-Danlos Syndrome. Genes. 2022; 13(5):934. https://doi.org/10.3390/genes13050934

Chicago/Turabian Style

Kiener, Sarah, Lucie Chevallier, Vidhya Jagannathan, Amaury Briand, Noëlle Cochet-Faivre, Edouard Reyes-Gomez, and Tosso Leeb. 2022. "A COL5A2 In-Frame Deletion in a Chihuahua with Ehlers-Danlos Syndrome" Genes 13, no. 5: 934. https://doi.org/10.3390/genes13050934

Find Other Styles
Note that from the first issue of 2016, MDPI journals use article numbers instead of page numbers. See further details here.

Article Access Map by Country/Region

1
Back to TopTop