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OMIA 001525-9615 : Leukocyte adhesion deficiency, type III in Canis lupus familiaris

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 612840 (trait) , 607901 (gene)

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

By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.

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
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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