OMIA 002226-9615 : Lipid malabsorption, ACSL5-related in Canis lupus familiaris

In other species: cattle

Possibly relevant human trait(s) and/or gene(s) (MIM number): 605677 (gene)

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2020

Inheritance: O'Brien et al. (2020): "A PCR-based diagnostic test was developed and confirmed fully penetrant autosomal recessive mode of inheritance. . . . Of 19 samples tested, nine were homozygous for the deletion, all of which exhibited signs of disease (Fig. S4). In the controls, six samples were homozygous wild type and four were heterozygous for the variant. Dogs heterozygous for the variant were asymptomatic but came from families known to produce offspring with the disease phenotype."

Mapping: O'Brien et al. (2020): "Using genome-wide association analysis, an associated locus on CFA28 (Praw = 2.87E−06) was discovered and validated in a closely related population (Praw = 1.75E−45)."

Molecular basis: O'Brien et al. (2020): "A 103.3 kb deletion NC_006610.3CFA28:g.23380074_23483377del, containing genes Acyl-CoA Synthetase Long Chain Family Member 5 (ACSL5) and Zinc Finger DHHC-Type Containing 6 (ZDHHC6), was characterised using whole transcriptomic data."

Clinical features: O'Brien et al. (2020): "In an Australian Kelpie breeding population, 17 puppies presented with intestinal lipid malabsorption. Juvenile dogs exhibited stunted postnatal growth, steatorrhea, abdominal distension and a wiry coat."

Pathology: O'Brien et al. (2020): "Histological examination of the small intestine showed evidence of mild non-specific chronic enteritis including focal ileal ulceration, rare crypt abscesses in the ileum and colon, and possible crypt fusion in the jejunum."

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
ACSL5 acyl-CoA synthetase long-chain family member 5 Canis lupus familiaris 28 NC_051832.1 (23970117..24011237) ACSL5 Homologene, Ensembl, NCBI gene

Variants

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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.

Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.

OMIA Variant ID Breed(s) Variant Phenotype Gene Allele Type of Variant Source of Genetic Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Inferred EVA rsID Year Published PubMed ID(s) Acknowledgements
1259 Australian Kelpie Intestinal lipid malabsorption ACSL5 deletion, gross (>20) Naturally occurring variant CanFam3.1 28 g.23380074_23483377del NC_006610.3CFA28:g.23380074_23483377del (O/Brien et al., 2020) 2020 33106515

Reference


2020 O'Brien, M.J., Beijerink, N.J., Sansom, M., Thornton, S.W., Chew, T., Wade, C.M. :
A large deletion on CFA28 omitting ACSL5 gene is associated with intestinal lipid malabsorption in the Australian Kelpie dog breed. Sci Rep 10:18223, 2020. Pubmed reference: 33106515. DOI: 10.1038/s41598-020-75243-x.

Edit History


  • Created by Frank Nicholas on 23 Jan 2020
  • Changed by Frank Nicholas on 29 Oct 2020