A frameshift variant in the COL5A1 gene in a cat with Ehlers-Danlos syndrome.

Spycher, M; Bauer, Anina; Jagannathan, Vidhya; Frizzi, M; De Lucia, M; Leeb, Tosso (2018). A frameshift variant in the COL5A1 gene in a cat with Ehlers-Danlos syndrome. Animal genetics, 49(6), pp. 641-644. Wiley 10.1111/age.12727

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Ehlers-Danlos syndrome (EDS) is a group of heritable connective tissue disorders caused by defective collagen synthesis or incorrect assembly of the collagen triple helical structure. EDS is characterised by joint hypermobility, skin hyperextensibility, abnormal scarring, poor wound healing and tissue friability. Human EDS may be caused by variants in several different genes including COL5A1, which encodes the collagen type V alpha 1 chain. For the present study we investigated a 1.5-year-old, spayed female, domestic shorthair cat with EDS. The affected cat showed multiple recurrent skin tears, hyperextensibility of the skin and joint abnormalities. We obtained whole genome sequencing data from the affected cat and searched for variants in candidate genes known to cause EDS. We detected a heterozygous single base-pair deletion in exon 43 of the COL5A1 gene, namely c.3420delG. The deletion was predicted to result in a frameshift and premature stop codon: p.(Leu1141SerfsTer134). Sanger sequencing confirmed that the variant was present in the affected cat and absent from 103 unaffected cats from different breeds. The variant was also absent from a Burmese cat with EDS. Based on knowledge about the functional impact of COL5A1 variants in other species, COL5A1:c.3420delG represents a compelling candidate causative variant for the observed EDS in the affected cat.

Item Type:

Journal Article (Original Article)

Division/Institute:

05 Veterinary Medicine > Research Foci > DermFocus
05 Veterinary Medicine > Department of Clinical Research and Veterinary Public Health (DCR-VPH) > Institute of Genetics
05 Veterinary Medicine > Department of Clinical Research and Veterinary Public Health (DCR-VPH)

Graduate School:

Graduate School for Cellular and Biomedical Sciences (GCB)

UniBE Contributor:

Bauer, Anina; Jagannathan, Vidya and Leeb, Tosso

Subjects:

500 Science > 590 Animals (Zoology)
600 Technology > 630 Agriculture
500 Science > 570 Life sciences; biology
600 Technology > 610 Medicine & health

ISSN:

0268-9146

Publisher:

Wiley

Language:

English

Submitter:

Tosso Leeb

Date Deposited:

12 Nov 2018 10:33

Last Modified:

01 Jan 2020 02:30

Publisher DOI:

10.1111/age.12727

PubMed ID:

30246406

Uncontrolled Keywords:

Felis catus collagen dermatology genodermatosis skin whole genome sequencing

BORIS DOI:

10.7892/boris.121079

URI:

https://boris.unibe.ch/id/eprint/121079

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