OMIA:002064-9685 : Autoimmune lymphoproliferative syndrome in Felis catus (domestic cat) |
Categories: Immune system phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 601859 (trait) , 134638 (gene)
Single-gene 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:
Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
---|---|---|---|---|---|---|
FASLG | Fas ligand (TNF superfamily, member 6) | Felis catus | F1 | NC_058384.1 (14760878..14768459) | FASLG | 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 | Year Published | PubMed ID(s) | Acknowledgements |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
613 | British Shorthair (Cat) | Autoimmune lymphoproliferative syndrome | FASLG | duplication | Naturally occurring variant | Felis_catus_9.0 | F1 | g.16871916dup | c.418dup | p.(R140Kfs*37) | NM_001009352.1; NP_001009352.1; published as c.413_414insA "insertion of an adenine at position 14,607,400 [Felis_Catus_6.2]" (Aberdein et al., 2017); changed in this table to a recent reference genome and HGVS nomenclature | 2017 | 27770190 |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2022). OMIA:002064-9685: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
References
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
2017 | Aberdein, D., Munday, J.S., Dittmer, K.E., Heathcott, R.W., Lyons, L.A. : |
Frequency of a FAS ligand gene variant associated with inherited feline autoimmune lymphoproliferative syndrome in British shorthair cats in New Zealand. N Z Vet J 65:327-331, 2017. Pubmed reference: 28814155. DOI: 10.1080/00480169.2017.1367731. | |
Aberdein, D., Munday, J.S., Gandolfi, B., Dittmer, K.E., Malik, R., Garrick, D.J., Lyons, L.A. : | |
Erratum to: A FAS-ligand variant associated with autoimmune lymphoproliferative syndrome in cats. Mamm Genome 28:152-154, 2017. Pubmed reference: 28101633. DOI: 10.1007/s00335-016-9676-1. | |
Aberdein, D., Munday, J.S., Gandolfi, B., Dittmer, K.E., Malik, R., Garrick, D.J., Lyons, L.A. : | |
A FAS-ligand variant associated with autoimmune lymphoproliferative syndrome in cats. Mamm Genome 28:47-55, 2017. Pubmed reference: 27770190. DOI: 10.1007/s00335-016-9668-1. | |
2015 | Aberdein, D., Munday, J.S., Fairley, R.A., Vernau, W., Thompson, K.G. : |
A novel and likely inherited lymphoproliferative disease in British Shorthair kittens. Vet Pathol 52:1176-82, 2015. Pubmed reference: 26041772. DOI: 10.1177/0300985815586224. |
Edit History
- Created by Frank Nicholas on 28 Oct 2016
- Changed by Frank Nicholas on 28 Oct 2016
- Changed by Frank Nicholas on 20 May 2017
- Changed by Frank Nicholas on 14 Sep 2017
- Changed by Imke Tammen2 on 22 May 2022