Categories: Immune system phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 601859 (trait) , 134638 (gene)

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal recessive

Disease-related: yes

Key variant known: yes

Year key variant first reported: 2017

Species-specific name: Feline autoimmune lymphoproliferative syndrome

Species-specific symbol: ALPS, FALPS

Inheritance: The results presented by Aberdein et al. (2017; Mamm Genome) are consistent with autosomal recessive inheritance.

Molecular basis: Aberdein et al. (2017; Mamm Genome): insertion "of an adenine within exon 3 of the FAS-ligand gene" (c.413_414insA) at location 14607400 on chromosome FCA F1, resulting "in a frameshift and a predicted premature stop codon at position 176 of the 280 amino acid protein chain (p.Arg140Lysfs*37)"

Clinical features: Aberdein et al. (2015): "Affected kittens typically developed rapidly progressive and marked generalized lymphadenopathy, moderate splenomegaly, and regenerative and likely hemolytic anemia from 6 weeks of age."

Pathology: Aberdein et al. (2015): "Microscopic findings were suggestive of multicentric T-cell lymphoma, but additional testing revealed a polyclonal population of CD3+/CD4-/CD8- "double negative" T cells (DNT cells)."

Prevalence: "Three additional affected BSH kittens were homozygous for the variant, while 11 of 16 unaffected, but closely related, BSH cats were heterozygous for the variant. All BSH cats in the study were from a population with significant inbreeding. The variant was not identified in a further survey of 510 non-BSH cats." (Aberdein et al., 2017; Mamm Genome) Aberdein et al. (2017; NZ Vet J): "Of 32 BSH cats successfully tested for the presence of the FASLG variant, one kitten (3%) was homozygous (FALPS-affected), and seven (22%) cats were heterozygous (carriers) for the FASLG variant allele, and 24 (75%) cats were homozygous for the wild type allele. The overall frequency of the FASLG variant allele in these 32 cats was 0.14. Cats carrying the FASLG variant were from all three breeding catteries sampled, including two catteries that had not previously reported cases of FALPS."

Breed: British Shorthair (Cat) (VBO_0100052).
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: