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Clinical and molecular characterization of Italian patients affected by Cohen syndrome.
[cohen syndrome]
Cohen
syndrome
is
an
autosomal
recessive
disorder
with
variability
in
the
clinical
manifestations
,
characterized
by
developmental
delay
,
visual
disability
,
facial
dysmorphisms
and
intermittent
neutropenia
.
We
described
a
cohort
of
10
patients
affected
by
Cohen
syndrome
from
nine
Italian
families
ranging
from
5
to
52
years
at
assessment
.
Characteristic
age
related
facial
changes
were
well
documented
.
Visual
anomalies
,
namely
retinopathy
and
myopia
,
were
present
in
9
/
10
patients
(
retinopathy
in
9
/
10
and
myopia
in
8
/
10
)
.
Truncal
obesity
has
been
described
in
all
patients
older
than
6
years
(
8
/
8
)
.
DNA
samples
from
all
patients
were
analyzed
for
mutations
in
COH
1
by
DHPLC
.
We
detected
15
COH
1
alterations
most
of
them
were
truncating
mutations
,
only
one
being
a
missense
change
.
Partial
gene
deletions
have
been
found
in
two
families
.
Most
mutations
were
private
.
Two
were
already
reported
in
the
literature
just
once
.
A
single
base
deletion
leading
to
p
.
T
3708
fs
3769
,
never
reported
before
,
was
found
in
three
apparently
unrelated
families
deriving
from
a
restricted
area
of
the
Veneto
's
lowland
,
between
Padova
town
and
Tagliamento
river
,
in
heterozygous
state
.
Given
the
geographical
conformation
of
this
region
,
which
is
neither
geographically
or
culturally
isolated
,
a
recent
origin
of
the
mutation
could
be
hypothesized
.
Diseases
Validation
Diseases presenting
"mutations in coh1"
symptom
cohen syndrome
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