In other species: taurine cattle

Categories: Digestive / alimentary phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 605677 (gene)

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal recessive

Disease-related: 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."

Breed: Australian Kelpie (Dog) (VBO_0200090).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).

Associated gene: