Equine Genetic Disease

Question 1

MYH1

Answer 1

IMM in QH - see lymphocytes in mm fibers

Question 2

MYO5A

Answer 2

Lavender Foal Syndrome (Color coat dilution lethal)

arabian/egyptian foals

Cannot stand, rigid limb extension

Question 3

TRPM1

Answer 3

Congenital night blindness

Apaloosa,

linked to leopard spotting complex

Question 4

DDB2

Answer 4

Ocular SCC

Haflinger | Percheron | Belgian Draft

DNA repair in UV light damage

Question 5

KRT25 and SP6

Answer 5

Curly Coat Autosomal Dominant

Question 6

HODX3

Answer 6

OAAM

Arabians

Incoordination - weak foal

Question 7

GYS1

Answer 7

PSSM1

Autosomal dominant

Gain of function mutation

Question 8

ACAN

Answer 8

Dwarfism and abnormal cartilage growth in shetland ponies AR

Question 9

DNAPK_cs

Answer 9

SCID in Arabian and X

B and T lymphocytes

Question 10

B3GALNT2

Answer 10

Hydrocephalus in Friesians Stillbirth and dystocia

Question 11

ST14

Answer 11

Naked foal syndrome

Akhal Teke

Lethal hairlessness, dry thick skin

<3y

Question 12

SCN4A

Answer 12

HYPP

Autosomal semi dominant

Question 13

GBE1

Answer 13

GBED QH - cannot store glycogen weak and die

Question 14

MUTYH/ TOE1

Answer 14

Cerebellar Abiotrophy Arabian and German Riding Pony Autosomal Recessive Ataxia from 6weeks Purkinje cell degeneration

Question 15

SRY

Answer 15

Ovotesticular disorder

Y linked

Question 16

DMRT3

Answer 16

Gaitedness

Question 17

ITGA2b

Answer 17

Glanzmann Thrombasthenia

platelet fibrinogen receptor

Question 18

PLOD1

Answer 18

Warmblood fragile foal syndrome

Also in TB, Hanoverian, Morgan

Not associated with fractures in TB - low prevalence 1%

Question 19

LAMC3

Answer 19

JEB in Draft Horses can involve hoof detachment

Question 20

SLC5A3

Answer 20

Immunodeficienct of Fell Pony Foals anemia and death Dales ponies too

Question 21

PPIB

Answer 21

Cyclophilin B - HERDA AR

Question 22

PMEL17

Answer 22

Multiple Ocular Defects

Semi dominant

Question 23

RYR1

Answer 23

Malignant Hyperthermia

Autosomal Dominant

Triggers = stress, exercise, GA

Question 24

IMM in QH - see lymphocytes in mm fibers

Answer 24

MYH1

Question 25

Lavender Foal Syndrome (Color coat dilution lethal) arabian/egyptian foals Cannot stand, rigid limb extension

Answer 25

MYO5A

Question 26

Congenital night blindness Apaloosa, linked to leopard spotting complex

Answer 26

TRPM1

Question 27

Ocular SCC Haflinger | Percheron | Belgian Draft DNA repair in UV light damage

Answer 27

DDB2

Question 28

Curly Coat Autosomal Dominant

Answer 28

KRT25 and SP6

Question 29

OAAM Arabians Incoordination - weak foal

Answer 29

HODX3

Question 30

PSSM1 Autosomal dominant Gain of function mutation

Answer 30

GYS1

Question 31

SCID in Arabian and X B and T lymphocytes

Answer 31

DNAPK_cs

Question 32

Naked foal syndrome Akhal Teke Lethal hairlessness, dry thick skin \<3y

Answer 32

ST14

Question 33

HYPP Autosomal semi dominant

Answer 33

SCN4A

Question 34

GBED QH - cannot store glycogen weak and die

Answer 34

GBE1

Question 35

Cerebellar Abiotrophy Arabian and German Riding Pony Autosomal Recessive Ataxia from 6weeks Purkinje cell degeneration

Answer 35

MUTYH/ TOE1

Question 36

Ovotesticular disorder Y linked

Answer 36

SRY

Question 37

Gaitedness

Answer 37

DMRT3

Question 38

Dwarfism, skeletal ativism in Shetland and Mini Radius and ulna fully formed

Answer 38

SHOX

Question 39

Glanzmann Thrombasthenia platelet fibrinogen receptor

Answer 39

ITGA2b

Question 40

Warmblood fragile foal syndrome Also in TB, Hanoverian, Morgan Not associated with fractures in TB - low prevalence 1%

Answer 40

PLOD1

Question 41

JEB in Draft Horses can involve hoof detachment

Answer 41

LAMC3

Question 42

Immunodeficienct of Fell Pony Foals anemia and death Dales ponies too

Answer 42

SLC5A3

Question 43

Cyclophilin B - HERDA AR

Answer 43

PPIB

Question 44

Multiple Ocular Defects Semi dominant

Answer 44

PMEL17

Question 45

Malignant Hyperthermia Autosomal Dominant Triggers = stress, exercise, GA

Answer 45

RYR1