OMIA 002064-9685 : Autoimmune lymphoproliferative syndrome in Felis catus

See the equivalent entry at NCBI

Possible human homologue (MIM number): 601859

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key mutation known: yes

Year key mutation first reported: 2017

Species-specific symbol: ALPS

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)"

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.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
FASLG Fas ligand (TNF superfamily, member 6) Felis catus F1 NC_018739.3 (16866013..16873600) FASLG Homologene, Ensembl, NCBI gene

Variants

By default, variants are sorted chronologically by year of publication, to provide a historical perspective.

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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
British Shorthair Autoimmune lymphoproliferative syndrome FASLG insertion, small (<=20) g.14607400insA c.413_414insA p.Arg140Lysfs*37 2017 27770190

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 :1-5, 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. :
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.
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.
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