OMIA 000595-9685 : Leukocyte adhesion deficiency, type I in Felis catus

In other species: dog , cattle , water buffalo

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 116920 (trait) , 600065 (gene)

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2017

Cross-species summary: Affected animals die because of extreme susceptibility to infections, caused by an inability of white blood cells (leukocytes) to pass from the blood stream into infected tissue. This inability is due to the lack of a membrane glycoprotein called the leukocyte integrin beta-2 subunit or CD18.

Species-specific symbol: FLAD

Molecular basis: Bauer et al. (2017): "a 24 bp deletion at the exon 2 to intron 2 boundary (c.46_58 + 11del), predicting premature translational termination due to abnormal splicing of exon 1 to exon 3 or 4"

Clinical features: Bauer et al. (2017): "Feline LAD exhibits features similar to LAD in other species. However, clinical episodes in FLAD appeared milder allowing for an extended life expectancy under long-term antimicrobial therapy, possibly due to an alternative, CD18-independent T-cell proliferation pathway."

Breed: Domestic Longhair.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
ITGB2 integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) Felis catus C2 NC_058376.1 (1755806..1781525) ITGB2 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
775 Leukocyte adhesion deficiency, type I ITGB2 ITGB-2 missing exon 2 deletion, gross (>20) Naturally occurring variant Felis_catus_9.0 C2 g.1772101_1772124del c.46_58+11del XM_011285804.3; Bauer et al. (2017) "24 bp deletion at the exon 2 to intron 2 boundary (c.46_58 + 11del), predicting premature translational termination due to abnormal splicing of exon 1 to exon 3 or 4." 2017 28750142 Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley.

Reference


2017 Bauer, T.R., Pratt, S.M., Palena, C.M., Raj, K., Giger, U., Bauer, T.R., Pratt, S.M., Palena, C.M., Raj, K., Giger, U. :
Feline leukocyte adhesion (CD18) deficiency caused by a deletion in the integrin β<sub>2</sub> (ITGB2) gene. Vet Clin Pathol 46:391-400, 2017. Pubmed reference: 28750142. DOI: 10.1111/vcp.12526.

Edit History


  • Created by Frank Nicholas on 04 Aug 2017
  • Changed by Frank Nicholas on 04 Aug 2017