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Search for the best indicators for the presence of a VPS13B gene mutation and confirmation of diagnostic criteria in a series of 34 patients genotyped for suspected Cohen syndrome.
[cohen syndrome]
Cohen
syndrome
is
a
rare
autosomal
recessive
inherited
disorder
that
results
from
mutations
of
the
VPS
13
B
gene
.
Clinical
features
consist
of
a
combination
of
mental
retardation
,
facial
dysmorphism
,
postnatal
microcephaly
,
truncal
obesity
,
slender
extremities
,
joint
hyperextensibility
,
myopia
,
progressive
chorioretinal
dystrophy
,
and
intermittent
neutropenia
.
The
aim
of
the
study
was
to
determine
which
of
the
above
clinical
features
were
the
best
indicators
for
the
presence
of
VPS
13
B
gene
mutations
in
a
series
of
34
patients
with
suspected
Cohen
syndrome
referred
for
molecular
analysis
of
VPS
13
B
.
14
VPS
13
B
gene
mutations
were
identified
in
12
patients
,
and
no
mutation
was
found
in
22
patients
.
The
presence
of
chorioretinal
dystrophy
(
92
%
vs
32
%
,
p
=
0
.
0023
)
,
intermittent
neutropenia
(
92
%
vs
5
%
,
p
<
0
.
001
)
,
and
postnatal
microcephaly
(
100
%
vs
48
%
,
p
=
0
.
0045
)
was
significantly
higher
in
the
group
of
patients
with
a
VPS
13
B
gene
mutation
compared
to
the
group
of
patients
without
a
mutation
.
All
patients
with
VPS
13
B
mutations
had
chorioretinal
dystrophy
and
/
or
intermittent
neutropenia
.
The
Kolehmainen
diagnostic
criteria
provided
100
%
sensibility
and
77
%
specificity
when
applied
to
this
series
.
From
this
study
and
a
review
of
more
than
160
genotyped
cases
from
the
literature
,
it
is
concluded
that
,
given
the
large
size
of
the
gene
,
VPS
13
B
screening
is
not
indicated
in
the
absence
of
chorioretinal
dystrophy
or
neutropenia
in
patients
aged
over
5
years
.
The
follow-up
of
young
patients
could
be
a
satisfactory
alternative
unless
there
are
some
reproductive
issues
.
Diseases
Validation
Diseases presenting
"vps13b screening is not indicated in the absence of chorioretinal dystrophy or neutropenia in patients aged over 5 years"
symptom
cohen syndrome
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