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SLC3A1 and SLC7A9 mutations in autosomal recessive or dominant canine cystinuria: a new classification system.
[cystinuria]
Cystinuria
,
one
of
the
first
recognized
inborn
errors
of
metabolism
,
has
been
reported
in
many
dog
breeds
.
To
determine
urinary
cystine
concentrations
,
inheritance
,
and
mutations
in
the
SLC
3
A
1
and
SLC
7
A
9
genes
associated
with
cystinuria
in
3
breeds
.
Mixed
and
purebred
Labrador
Retrievers
(
n
=
6
)
,
Australian
Cattle
Dogs
(
6
)
,
Miniature
Pinschers
(
4
)
,
and
1
mixed
breed
dog
with
cystine
urolithiasis
,
relatives
and
control
dogs
.
Urinary
cystinuria
and
aminoaciduria
was
assessed
and
exons
of
the
SLC
3
A
1
and
SLC
7
A
9
genes
were
sequenced
from
genomic
DNA
.
In
each
breed
,
male
and
female
dogs
,
independent
of
neuter
status
,
were
found
to
form
calculi
.
A
frameshift
mutation
in
SLC
3
A
1
(
c
.
350
delG
)
resulting
in
a
premature
stop
codon
was
identified
in
autosomal-recessive
(
AR
)
cystinuria
in
Labrador
Retrievers
and
mixed
breed
dogs
.
A
6
bp
deletion
(
c
.
1095
_
1100
del
)
removing
2
threonines
in
SLC
3
A
1
was
found
in
autosomal-dominant
(
AD
)
cystinuria
with
a
more
severe
phenotype
in
homozygous
than
in
heterozygous
Australian
Cattle
Dogs
.
A
missense
mutation
in
SLC
7
A
9
(
c
.
964
G
>
A
)
was
discovered
in
AD
cystinuria
in
Miniature
Pinschers
with
only
heterozygous
affected
dogs
observed
to
date
.
Breed-
specific
DNA
tests
were
developed
,
but
the
prevalence
of
each
mutation
remains
unknown
.
These
studies
describe
the
first
AD
inheritance
and
the
first
putative
SLC
7
A
9
mutation
to
cause
cystinuria
in
dogs
and
expand
our
understanding
of
this
phenotypically
and
genetically
heterogeneous
disease
,
leading
to
a
new
classification
system
for
canine
cystinuria
and
better
therapeutic
management
and
genetic
control
in
these
breeds
.
Diseases
Validation
Diseases presenting
"aminoaciduria"
symptom
cystinuria
This symptom has already been validated
