Categories: Immune system phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 612840 (trait) , 607901 (gene)

Links to relevant human diseases in MONDO:

• MONDO:0013016: leukocyte adhesion deficiency 3

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal recessive

Disease-related: 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).

Clinical features: Key clinical signs include pyrexia, bleeding diathesis, and dental disease (Hugo & Heading, 2014; Boudreaux et al.,2010). Other signs may include joint effusions (Hugo & Heading, 2014), lameness, and infections, such as pododermatitis, deep pyoderma, and cellulitis (Boudreaux et al., 2010). Bleeding diathesis has been noted to occur following injury or surgery (Boudreaux et al., 2010; Hugo and Heading, 2014). Affected dogs have persistent leukocytosis and neutrophilia (Hugo & Heading, 2014; Boudreaux et al., 2010). Assays of haemostasis may yield variable results, including prolonged buccal mucosal bleeding times, normal coagulation screening assays and vWF antigen concentration, and delayed platelet aggregation and clot retraction (Hugo & Heading, 2014; Boudreaux et al., 2010). IT thanks DVM student Mulan Zhong, who provided the basis of this contribution in May 2023.

Breeds: German Shepherd Dog (Dog) (VBO_0200577), Rottweiler (Dog) (VBO_0201143).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).

Associated gene: