Genodermatoses

Question 1

What gene is associated with a cornification defect (generalized scale) in GSDs?

Answer 1

ASPRV –> profilaggrin to filaggrin processing

Question 2

What gene is associated with autosomal recessive congenital ichthyosis (ARCI) in Cavalier King Charles Spaniels?

Answer 2

FAM83H; autosomal recessive

Question 3

What gene is associated with autosomal recessive congenital ichthyosis (ARCI) in Great Danes?

Answer 3

SLC27A4 - encodes FATP4 (fatty acid transporter 4)

not compatible with life past puppyhood

Question 4

What gene is associated with autosomal recessive congenital ichthyosis (ARCI) in rottweilers?

Answer 4

DSG-1, autosomal recessive

Question 5

What gene is associated with canine cyclic hematopoiesis aka grey collie syndrome aka canine cyclic neutropenia?

Answer 5

APB3 –> adaptor protein complex 3

Question 6

What gene is associated with epidermolytic ichthyosis of Norfolk terriers?

Answer 6

KRT10, autosomal recessive

Question 7

What gene is associated with follicular dysplasia in Irish water spaniels?

Answer 7

R-spondin 2 –> autosomal DOMINANT

Question 8

What gene is associated with follicular dysplasia of portugese water dogs?

Answer 8

R-spondin 2

Question 9

What gene is associated with hereditary nasal parakeratosis (HNPK) in labs and greyhounds?

Answer 9

SUV39H2

Question 10

What gene is associated with hyperkeratotic footpad hyperkeratosis (HPH) in dogues de Bordeaux?

Answer 10

KRT16, autosomal recessive

Question 11

What gene is associated with linear verrucous nevi in chihuahuas?

Answer 11

NSDHL

Question 12

What gene is associated with Musladin-Lueke syndrome (aka geleophysic dysplasia) in Beagles?

Answer 12

ADAMTS2

Question 13

What gene is associated with nodular dermatofibrosis/multiple collagenous nevi in German Shepherds?

Answer 13

FLCN – orthologue to BHD gene in humans
autosomal DOMINANT

Question 14

What gene is associated with nonepidermolytic ichthyiosis in golden retrievers?

Answer 14

1. PNPLA-1 –> needed for cornified envelope formation; autosome recessive
2. ABHD5

Question 15

What gene is associated with nonepidermolytic ichthyiosis of the American bulldog?

Answer 15

NIPAL-4 –> encodes ichthyin protein, autosomal recessive

Question 16

What gene is associated with nonepidermolytic ichthyosis in jack russell terriers?

Answer 16

TGM1 –> needed for formation of cornified envelope, autosomal recessive

Question 17

What gene is associated with oculocutaneous albinism (cream/white pigmentation, predisposing risk factor for melanocytic neoplasm) in Doberman Pinschers?

Answer 17

SLC45A2

Question 18

What gene is associated with pawpad hyperkeratosis, linear hyperkeratotic plaques and follicular fronds in labs?
Mode of inheritance?

Answer 18

NSDHL (NADPH steroid dehydrogenase like protein, required to convert lanosterol to cholesterol), X-linked semidominant

Question 19

What gene mutation causes footpad hyperkeratosis and allergies in Rottweilers?
Mode of inheritance?

Answer 19

• Dsg1
• autosomal SEMI-DOMINANT

Question 20

What gene mutation has been associated with atopic dermatitis in goldens?

Answer 20

RAB3C

Question 21

What gene mutation has been associated with atopic dermatitis in westies?

Answer 21

PTPN22

Question 22

What gene mutation has been associated with dystrophic epidermolysis bullosa (DEB) in dogs, cats, and cattle?

Answer 22

COL7A1 (goldens and cats - mild recessive DEB)

Question 23

What gene mutation has been associated with epidermolysis bullosa simplex in Friesian cattle?

Answer 23

K5/K14

Question 24

What gene mutation is assocaited with hyaluronanosis in Shar peis?

Answer 24

HAS2 - autosomal semi-DOMINANT

Question 25

What gene mutation is associated with black hair follicular dysplasia and color dilution alopecia?

Answer 25

MLPH

Question 26

What gene mutation is associated with dermatospraxis (Ehlers-Danlos syndrome type VII) in Doberman Pinschers?

Answer 26

ADAMTS2

Question 27

What gene mutation is associated with ectodermal dysplasia in Mexican hairless and Chinese crested dogs?

Answer 27

FOX13 X-linked autosomal DOMINANT

Question 28

What gene mutation is associated with ectodermal dysplasia/skin fragility syndrome in Chespeake Bay Retrievers?

Answer 28

PKP1 (autosomal recessive)

Question 29

What gene mutation is associated with Ehlers-Danlos syndrome, classic type 1 in Labrador retrievers?

Answer 29

COL5A1 - autosomal DOMINANT

Question 30

What gene mutation is associated with exfoliative cutaneous lupus erythematosus in GSPs?

Answer 30

UNC93B1

Question 31

What gene mutation is associated with hypotrichosis in Scottish deerhounds and American hairless terriers?

Answer 31

SGK3

Question 32

What gene mutation is associated with ichthyosis in Shar peis?

Answer 32

KRT1 - autosomal DOMINANT

Question 33

What gene mutation is associated with junctional epidermolysis bullosa in Australian shepherds?

Answer 33

LAMB3

Question 34

What gene mutation is associated with junctional epidermolysis bullosa in Charolais cattle?

Answer 34

defects in a6B4 integrin

Question 35

What gene mutation is associated with junctional epidermolysis bullosa in draft horses (**Belgians**) and German black-headed mutton sheep?

Answer 35

LAMC2

Question 36

What gene mutation is associated with junctional epidermolysis bullosa in GSPs and American Saddlebred horses?

Answer 36

LAMA3 - defect in laminin - Lethal in saddlebreds - GSPs -> decreased expression of laminin-332 (laminin-5); autosomal recessive

Question 37

What gene mutation is associated with lavendar foal syndrome (dilute coat color in Arabians with fatal neurologic defects)?

Answer 37

MYO5A

Question 38

What gene mutation is associated with ligneous membranitis in Scottish terriers?

Answer 38

PLG

Question 39

What genetic mutation is associated with a dilute coat color?

Answer 39

MLPH

Question 40

What genetic mutation is associated with acral mutilation syndrome in hunting dogs?

Answer 40

GDNF

Question 41

What genetic mutation is associated with Dachshunds with a dilute coat color and neurologic abnormalities?

Answer 41

MYO5A

Question 42

What genetic mutation is associated with Darier's disease in Irish setters?

Answer 42

ATP2A2 autosomal DOMINANT

Question 43

What genetic mutation is associated with ecodermal dysplasia in Dachshunds that also are anhidrotic?

Answer 43

EDA

Question 44

What genetic mutation is associated with lethal acrodermatitis?

Answer 44

MKLN1

Question 45

What genetic mutations are associated with dermoid sinus development in Rhodesian ridgebacks?

Answer 45

- FGF3 - FGF4 - FGF19

Question 46

A condition that is clinically similar to palmoplantar keratoderma of Dogues de Bordeauxs has been reported in Irish Terriers and Kromfohrlanders with a mutation in what gene?

Answer 46

FAM83G

Question 47

Ichthyosis fetalis in Chianina cattle is caused by a mutation in what gene?

Answer 47

ABCA12 (H1935R) - this disease tends to lethal in calves

Question 48

Naked foal syndrome in Akhal-Teke horses is caused by a defect in what gene?

Answer 48

ST14 - affects filaggrin processing (this disease is almost always fatal)

Question 49

Curly coats in Sphinx and Devon Rex cats as well as hypotrichosis in Hereford cattle is caused by a mutation in what gene?

Answer 49

KRT71

Question 50

A curly coat and hypotrichosis is cause by what gene in American Bashkir Curly horses and Missouri Foxtrotters?

Answer 50

KRT27

Question 51

Congenital junctional epidermolysis bullosa in cattle is caused by a defect in what gene? What does that gene encode?

Answer 51

- ITGB4 and ITGA6 - Encodes integrin α6β4

Question 52

Congenital junctional epidermolysis bullosa in SHEEP is caused by a defect in what gene? What does that gene encode?

Answer 52

- ITGB4 - Encodes integrin α6β4

Question 53

Congenital junctional epidermolysis bullosa is caused by a defect in what gene of cats?

Answer 53

COL17A1

Question 54

What mutation causes Darier's disease in dogs (mainly Irish Terriers, English Setters, and sometimes Shih Tzu's)

Answer 54

Mutation of the ATP2A2 gene

Question 55

Ectodermal dysplasia-skin fragility syndrome in Chesapeake Bay retriever dogs occurs due to a mutation in what gene?

Answer 55

PKP1 gene

Question 56

A defect in what keratin gene causes split pawpad disease

Answer 56

KRT5

Question 57

X-linked forms of ectodermal dysplasia are caused by a mutation in what gene(s)

Answer 57

EDA/EDAR

Question 58

HERDA (hereditary acquired regional dermal asthenia) in horses has been reported almost exclusively in Quarter horses and is associated with a mutation in what gene?

Answer 58

cyclophilin B (PPIB)

Question 59

Gene responsible for Junctional Epidermolysis Bullosa (JEB) in Belgian, Trait Breton, and Trait Comtois horses

Answer 59

LAMC2

Question 60

Gene responsible for Type IV Waardenberg syndrome

Answer 60

EdnrB

Question 61

Mutation to what gene causes equine graying with age and increases the risk of developing melanoma?

Answer 61

STX17

Question 62

A mutation in what gene is responsible for lethal white foal syndrome?

Answer 62

EdnrB *It is caused by the same mutation that causes the frame overo white spotting patterns* *same gene affected in Type IV Wardenberg syndrome in dogs and cats*

Question 63

Lethal lavender foal syndrome is fatal in affected Arabian horses (neuro and skin signs). It occurs due to a genetic mutation in what gene?

Answer 63

MYO5A (myosin-Va plays an important role in melanosome transfer from melanocytes to keratinocytes)

Question 64

Leopard spotting complex + congenital stationary night blindness in horses (mostly Apaloosas) is caused by a defect in what gene?

Answer 64

TRPM1