OMIA:001525-9615 : Leukocyte adhesion deficiency, type III in Canis lupus familiaris |
Categories: Immune system phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 612840 (trait) , 607901 (gene)
Links to MONDO diseases:
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2010
Species-specific symbol: LAD3
Molecular basis: By sequencing a likely candidate gene (based on clinical signs and pathology) in a single German Shepherd Dog that had been euthanased five years previously), Boudreaux et al. (2010) reported that a "12-base pair insertion was identified in the coding region for KINDLIN3 in the affected dog but not in the canine genome sequence or the control dog sequences. This mutation is predicted to result in the insertion of amino acids RRLP within an alpha helix located in the Kindlin-3 pleckstrin-homology domain of the F2 band 4.1, ezrin, radixin, moesin (FERM) subdomain". The KINDLIN3 gene is now known as FERMT3 (fermitin family member 3).
Breed: German Shepherd Dog.
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| FERMT3 | fermitin family member 3 | Canis lupus familiaris | 18 | NC_051822.1 (53896895..53879047) | FERMT3 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 576 | German Shepherd Dog | Leukocyte adhesion deficiency, type III | FERMT3 | insertion, small (<=20) | Naturally occurring variant | CanFam3.1 | 18 | g.52835932_52835933insGGCAGCCGTCTT | c.1349_1350insAAGACGGCTGCC | p.(L450_A451insRRLP) | XM_038425194.1; XP_038281122.1; 12-base pair insertion | 2010 | 20126836 |
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.
| 2014 | Hugo, T.B., Heading, K.L. : |
| Leucocyte adhesion deficiency III in a mixed-breed dog. Aust Vet J 92:299-302, 2014. Pubmed reference: 24954630 . DOI: 10.1111/avj.12206. | |
| 2010 | Boudreaux, MK., Wardrop, KJ., Kiklevich, V., Felsburg, P., Snekvik, K. : |
| A mutation in the canine Kindlin-3 gene associated with increased bleeding risk and susceptibility to infections. Thromb Haemost 103:475-7, 2010. Pubmed reference: 20126836 . DOI: 10.1160/TH09-09-0571. |
Edit History
- Created by Frank Nicholas on 03 Nov 2010
- Changed by Martha MaloneyHuss on 18 Aug 2011
- Changed by Frank Nicholas on 26 Sep 2011
- Changed by Frank Nicholas on 28 Sep 2011
- Changed by Frank Nicholas on 12 Dec 2011
- Changed by Frank Nicholas on 17 Jun 2013
- Changed by Frank Nicholas on 11 Apr 2014