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A random Abstract
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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
"mental retardation"
symptom
achondroplasia
alexander disease
alpha-thalassemia
aniridia
aromatase deficiency
canavan disease
classical phenylketonuria
coats disease
cohen syndrome
cowden syndrome
cystinuria
dentin dysplasia
familial hypocalciuric hypercalcemia
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
kabuki syndrome
kallmann syndrome
lamellar ichthyosis
lymphangioleiomyomatosis
monosomy 21
phenylketonuria
primary hyperoxaluria type 1
proteus syndrome
pyruvate dehydrogenase deficiency
sneddon syndrome
triple a syndrome
wolf-hirschhorn syndrome
zellweger syndrome
This symptom has already been validated