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

Possibly relevant human trait(s) and/or gene(s) (MIM number): 612840

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_006600.3 (52851775..52833954) FERMT3 Homologene, Ensembl, NCBI gene

Variants

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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
German Shepherd Dog Leukocyte adhesion deficiency, type III FERMT3 insertion, small (<=20) "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