Deafness in Dogs

Causes, Prevalence, and

Current Research
George M. Strain
Louisiana State University
Baton Rouge, Louisiana
USA
Forms of Deafness
■
inherited or acquired

■
congenital or later-onset

■
sensorineural or conductive

■
Result: eight possible combinations
(i.e., acquired later-onset
sensorineural deafness)
Definitions
■ sensorineural deafness - loss of function
because of loss of cochlear hair cells or
cochlear nerve neurons

■ conductive deafness - blockage of sound

transmission through outer and/or
middle ear without damage to cochlea
Inherited Congenital
Sensorineural Deafness
■
usually associated with the genes
responsible for white hair
➨piebald gene (sp) and extreme piebald (sw)
gene
➨merle (M) gene
■
deafness develops at 3-4 weeks of age
after the blood supply to the cochlea (stria
vascularis) degenerates
■
strial degeneration is thought to result
from absence of pigment cells
(melanocytes)
■
other pigmentation effects are frequently
seen
Dog Breeds With Congenital Deafness
■
reported in over 80 dog breeds
■
prevalence (unilateral and bilateral) worst
in:

■
Dalmatian (n=5,333) 30%
■
white Bull Terrier (n=346) 20%
■
English Setter (n=3,656) 8%
■
Australian Cattle Dog (n=296) 15%
■
English Cocker Spaniel (n=1,136) 7%
■
Jack Russell Terrier (n=56) 16%*
■
Catahoula Leopard Dog (n=78) 63%*
Hearing Testing
■
behavioral testing - sound stimuli outside
of the animal's visual field
➨cannot detect unilateral deafness
➨animals quickly adapt to testing
➨detected through other sensory modalities
■
electrodiagnostic testing - brainstem
auditory evoked response (BAER)
➨objective, non-invasive
➨detects unilateral deafness
➨limited availability
Brainstem Auditory Evoked Response
Genetics of Congenital
Deafness
■
Doberman - simple autosomal recessive

■
pigment-associated deafness in dogs -
most likely polygenic, incomplete
penetrance, or other mechanism – NOT
simple autosomal recessive

■
merle gene - dominant; homozygous
dogs have additional health problems
■
piebald genes - recessive, but all dogs in
the breed are homozygous
Demi Azure Pedigree

6 (5) 12 (11)
Dalmatian Deafness Prevalence in the
US

70.1% (3,740) N=5,333

80

70

60

50
Percent

40
21.9% (1,167)
30

20
8.0% (426)
10

0
Bilateral Unilateral Deaf
Prevalence of Deafness In
Dalmatians By Country
■
United States 30% (G Strain, N=5,333))

■
United Kingdom 21% (M Greening, N=2,282)

■
Holland 18% (B Schaareman,
N=1,208)
Effect of Parent Hearing Status On
Deafness Prevalence

B-B Parents (N=2,320) B-U Parents (N=728)

80
73%
70
59%
60

50
Percent

40
31%
30
21%
20
6% 11%
10

0
Bi Uni Deaf Bi Uni Deaf
Effect of Sex On Deafness
Prevalence

Male (N=2,459) Female (N=2,424)

80
71% 69%
70

60

50
Percent

40

30
22% 22%
20
7% 9%
10

0
Bi Uni Deaf Bi Uni Deaf
Coat Pigmentation Genes In The
Dalmatian
■
Base coat - underlying coat color
➨B - black (dominant)
➨b - liver (recessive)
■
Extreme piebald gene - sw - white
covering, recessive but homozygous in
all Dalmatians (hair is white if it
contains no pigment granules [melanin]
or other substances which absorb light)
■
Ticking gene - T - dominant, produces
holes in white to show underlying coat
color
Effect of the Extreme Piebald
Gene
■
Weak gene expression: failure of the
piebald gene to completely suppress
the underlying coat color (black or
liver) results in a patch

■
Strong gene expression: suppresses
pigmentation in the iris (blue eyes)
and tapetum (red eye), and in the
stria vascularis (deafness)
Effect of Patch On Deafness
Prevalence

Patched (N=436) Not Patched (N=4,404)

100
90
90%
80
68%
70
60
Percent

50
40
30 23%
20
8% 9%
10
2%
0
Bi Uni Deaf Bi Uni Deaf
Effect of Eye Color (Brown or Blue)
On Deafness Prevalence

BR-BR (N=4,246) BR-BL (N=372) BL-BL (N=143)

80
73%
70

60
49% 50%
50
Percent

40
33% 33%
30
21% 18% 17%
20

10 7%
0
Bi Uni Deaf Bi Uni Deaf Bi Uni Deaf
Effect of Retinal Pigmentation On
Deafness Prevalence

Pigmented (N=2,611) Not Pigmented (N=623)

80
71%
70

60
56%
50
Percent

40
29%
30
22%
20 15%
7%
10

0
Bi Uni Deaf Bi Uni Deaf
Impact Of Breed Standards
■
United States: allows blue eyes

■
Canada: does not allow blue eyes

■
Europe: does not allow blue eyes

■
Efforts through breedings to
reduce blue eyes in Norwegian
Dalmatians also reduced deafness
prevalence.
Breeding Recommendations
■
best advice: don't breed affected
animals
■
a unilaterally deaf animal is genetically
the same as a bilaterally deaf animal,
and SHOULD NOT BE BRED!
■
it is unwise to repeat breedings that
produced large numbers of deaf animals
■
avoid breeding to animals with a history
of producing many deaf offspring
Breeding Recommendations
(cont.)

■
do not totally breed away from patches
- possibly accept in the breed standard
■
avoid breedings to blue eyed animals

■
ALWAYS KNOW THE HEARING STATUS
OF DOGS YOU BREED TO!

■
BREEDING DECISIONS SHOULD ALWAYS
TAKE INTO CONSIDERATION THE
OVERALL GOOD OF THE BREED
Possible Impact of Selective
Breeding
■
a recent study by Wood & Lakhani*
suggested that selective breeding
against unilaterally and bilaterally
deaf animals could reduce deafness
to below 15% and 4% respectively. *The
Veterinary Journal 154:121, 1997

■
4-5 generations of selective breeding
would probably be necessary for a
detectable impact on overall
prevalence.
Current Research
Study: Molecular Genetics of
Deafness
■
AKC/CHF: Murphy, Strain "Genetics of
Hereditary Deafness in the Domestic
Dog"
■
candidate genes
– mitf
– c-kit
■
DNA collection from affected pedigrees
– Dalmatian
– English Cocker Spaniel
– English Setter
■
determination of mode of inheritance
Study: Molecular Genetics of
Deafness
■
mitf
■
human homolog of the mouse
microphthalmia (mi) gene
■
responsible for >20% of cases of
Waardenburg Syndrome type 2 in
humans
■
regulates the expression of several
pigment genes
■
necessary for transition of precursor
cells to melanoblasts (which become
Study: Molecular Genetics of
Deafness
■
c-kit
■
tyrosine kinase receptor
■
activation of the c-kit receptor regulates mitf
function
■
mutations result in the absence of
melanocytes and functional mast cells, as well
as defects in ova and sperm development and
blood cell formation
■
gene defects in mice produce dominant white
spotting and deafness
■
gene defects in humans produce piebaldism
and occasionally deafness
Study: Molecular Genetics of
Deafness
Results:

■
mitf – not causative for
deafness
■
c-kit – not causative for
deafness
■
mode of inheritance:
■
NOT simple autosomal recessive
■
best modeled as being inherited as a
single “locus” but one that does not
Other Ongoing Molecular Genetic
Studies
• AKC/CHF: Murphy, Strain: "Whole genome
screens using microsatellite markers in genetic
analyses of hereditary deafness in the Dalmatian
and English Setter“
• pedigree of >200 Dalmatians with DNA
• English setter pedigree being assembled
• whole-genome screens underway

• further funding being sought from NIH & CHF

References:
■
Strain GM. Deafness in Dogs & Cats web
page: www.lsu.edu/deafness/deaf.htm
■
Strain GM. 1996. Aetiology, prevalence and
diagnosis of deafness in dogs and cats.
British Veterinary Journal 152 (1): 17-36.
■
Little CC. 1957. The Inheritance Of Coat
Color in Dogs. Howell Book House: New
York. 194 pp.
■
Searle AG. 1968. Comparative Genetics of
Coat Colour In Mammals. Logos Press/
Academic Press: London. 310 pp.
Deafness in Dogs & Cats Web Site:

www.lsu.edu/deafness/deaf.htm

strain@lsu.edu