Genetics

Question 1

Samoyed hereditary glomerulopathy

Answer 1

X-linked dominant inheritance (COL4A5 gene) —> defect in Type 4 collagen (of glomerular basement membrane)
Known as Alport syndrome/hereditary nephritis

Note to self: XX female, XY male

Question 2

Gene mutation in GC in Boxers

Answer 2

Autosomal recessive inheritance
Gene: Neutrophil cytosolic factor (NCF) —> impairs oxidative burst which is used by neutrophils to target pathogens

Question 3

GSD and IBD

Answer 3

IgA, TLR4, NOD2

Breed independent gene mutation: TLR5

What are all these for?
TLR5: recognizes bacterial flagellin
TLR4: recognizes bacterial LPS
NOD2: recognizes components derived from bacterial peptidoglycan (Gram positive)

Question 4

Irish setters and gluten-sensitivity enteropathy

Answer 4

Autosomal recessive
Causes villous atrophy and reduced intestinal ALP

*Intestinal ALP detoxify LPS and prevent bacterial invasion

Question 5

SCWT and PLE/PLN

Answer 5

Gene: NPHS1, KIRREL2
Unknown inheritance (dominant vs recessive)
Abnormal podocyte protein (nephron, filtrin)

LPE/lymphangiectasia
(FS)GS, nephritis, podocytopathy

Question 6

Basenji and Fanconi’s syndrome

Answer 6

Autosomal recessive
FAN1 gene —> proximal renal tubular dysfunction

Question 7

Bernese Mountain Dogs and familial nephropathy

Answer 7

Type1 MPGN
But 1/2 of these dogs are also Lyme positive (which can cause ICGN)

Question 8

Brittany spaniel and C3 complement deficiency

Answer 8

Autosomal recessive
Frequent infections, renal disease (MPGN)

Question 9

Summary (GI dz)

Answer 9

GC in boxers (AR; NCF)
IBD in GSDs (IgA, TL4, NOD2)
Gluten-sensitivity in Irish setters (AR)
PLE/PLN in SCWT

Question 10

Summary (Renal dz)

Answer 10

PLE/PLN in SCWT (unknown inheritance; NPHS1, KIRREL2)
Hereditary GN in Samoyeds (X-linked DOMINANT; COL4A5)
Fanconi’s syndrome in Basenjis (AR; FAN1)
MPGN in Bernese Mountain Dog
Complement C3 deficiency in Brittany Spaniels (AR)

Question 11

Summary (Hematology)

Answer 11

C3 in Brittany Spaniels
CLAD in Irish Setters
Macrocyclic TCP in CKCS
Von Willebrand’s dz in Dobermans
PFK deficiency in Springer Spaniels

Question 12

Irish setters and CLAD

Answer 12

AR; Beta-2 integrin gene
Result in leukocyte diapedesis failure
CD18

*CLAD = Canine leukocyte adhesion deficiency

Question 13

CKCS and macrocytic TCP

Answer 13

Beta1-tubulin (involved in platelet productive by megakaryocytes)

Question 14

VWD in Dobermans

Answer 14

Autosomal INCOMPLETE
Type 1: Low [], normal structure
Type 2: Low [], abnormal structure
Type 3: Severely low to absent vWF

Question 15

PFK deficiency in Springer Spaniel

Answer 15

AR; PFK gene
Exertional myopathies/hemolytic crisis due to increased cell fragility in alkaline blood (hyperventilation) and increased body temp —> icterus, collapse, cramping, hemoglobinuria/hemoglobinemia (IV hemolysis)
*Also called glycogen storage dz VII, TARUI

Question 16

Copper storage disease in Bedlington Terriers

Answer 16

AR; COMMD1

Question 17

Shar Pei with SPAID (Shar Pei auto inflammatory disease)

Answer 17

Initially thought to be autosomal incomplete dominant transmission of HAS2 gene

Then, in 2017, discovered mutation of MTBP gene