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A canine model of Cohen syndrome: Trapped Neutrophil Syndrome.
[cohen syndrome]
Trapped
Neutrophil
Syndrome
(
TNS
)
is
a
common
autosomal
recessive
neutropenia
in
Border
collie
dogs
.
We
used
a
candidate
gene
approach
and
linkage
analysis
to
show
that
the
causative
gene
for
TNS
is
VPS
13
B
.
We
chose
VPS
13
B
as
a
candidate
because
of
similarities
in
clinical
signs
between
TNS
and
Cohen
syndrome
,
in
human
,
such
as
neutropenia
and
a
typical
facial
dysmorphism
.
Linkage
analysis
using
microsatellites
close
to
VPS
13
B
showed
positive
linkage
of
the
region
to
TNS
.
We
sequenced
each
of
the
63
exons
of
VPS
13
B
in
affected
and
control
dogs
and
found
that
the
causative
mutation
in
Border
collies
is
a
4
bp
deletion
in
exon
19
of
the
largest
transcript
that
results
in
premature
truncation
of
the
protein
.
Cohen
syndrome
patients
present
with
mental
retardation
in
99
%
of
cases
,
but
learning
disabilities
featured
in
less
than
half
of
TNS
affected
dogs
.
It
has
been
implied
that
loss
of
the
alternate
transcript
of
VPS
13
B
in
the
human
brain
utilising
an
alternate
exon
,
28
,
may
cause
mental
retardation
.
Mice
can
not
be
used
to
test
this
hypothesis
as
they
do
not
express
the
alternate
exon
.
We
show
that
dogs
do
express
alternate
transcripts
in
the
brain
utilising
an
alternate
exon
homologous
to
human
exon
28
.
D
ogs
can
be
used
as
a
model
organism
to
explore
the
function
of
the
alternately
spliced
transcript
of
VPS
13
B
in
the
brain
.
TNS
in
Border
collies
is
the
first
animal
model
for
Cohen
syndrome
and
can
be
used
to
study
the
disease
aetiology
.
Diseases
Validation
Diseases presenting
"common autosomal"
symptom
cohen syndrome
congenital adrenal hyperplasia
familial mediterranean fever
pendred syndrome
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