OMIA 002165-9685 : Ehlers-Danlos syndrome, classic type, 1 in Felis catus

Possibly relevant human trait(s) and/or gene(s) (MIM number): 130000

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Dominant

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2018

Molecular basis: By analysing the sequence of comparative functional candidate genes in "a 1.5-year-old, spayed female, domestic shorthair cat with EDS [Ehlers-Danlos syndrome]", Spycher et al. (2018) identified "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".

Clinical features: Spycher et al. (2018): "The affected cat showed multiple recurrent skin tears with little or no bleeding, located mainly on the dorsal neck and the shoulders, and hyperextensibility of the skin (Fig. 1). The skin extensibility index, according to Hansen et al. (2015), was 27%. Some of the previous lacerations had slowly healed leaving shiny alopecic scars. Other clinical findings included bilateral hip subluxation with a positive Ortolani sign even in the awake patient, bilateral carpal hyperextension with plantigrade appearance, pain and laxity during palpation of all joints and bilateral perineal hernias. The index cat was found on the street when she was a kitten together with a female littermate, which appeared to be normal at the clinical examination."

Breed: Domestic Shorthair.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
COL5A1 collagen, type V, alpha 1 Felis catus D4 NC_018735.3 (93332058..93182963) COL5A1 Homologene, Ensembl, NCBI gene

Variants

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Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
Domestic Shorthair Ehlers-Danlos syndrome, classic type, 1 COL5A1 deletion, small (<=20) FelCat 9.0 D4 g.93210344delC c.3420delG p.Leu1141SerfsTer134 2018 30246406

Reference


2018 Spycher, M., Bauer, A., Jagannathan, V., Frizzi, M., De Lucia, M., Leeb, T. :
A frameshift variant in the COL5A1 gene in a cat with Ehlers-Danlos syndrome. Anim Genet 49:641-644, 2018. Pubmed reference: 30246406. DOI: 10.1111/age.12727.

Edit History


  • Created by Frank Nicholas on 11 Feb 2019
  • Changed by Frank Nicholas on 11 Feb 2019