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Delineation of Cohen syndrome following a large-scale genotype-phenotype screen.
[cohen syndrome]
Cohen
syndrome
is
an
autosomal
recessive
condition
associated
with
developmental
delay
,
facial
dysmorphism
,
pigmentary
retinopathy
,
and
neutropenia
.
The
pleiotropic
phenotype
,
combined
with
insufficient
clinical
data
,
often
leads
to
an
erroneous
diagnosis
and
has
led
to
confusion
in
the
literature
.
Here
,
we
report
the
results
of
a
comprehensive
genotype-phenotype
study
on
the
largest
cohort
of
patients
with
Cohen
syndrome
assembled
to
date
.
We
found
22
different
COH
1
mutations
,
of
which
19
are
novel
,
in
probands
identified
by
our
diagnostic
criteria
.
In
addition
,
we
identified
another
three
novel
mutations
in
patients
with
incomplete
clinical
data
.
By
contrast
,
no
COH
1
mutations
were
found
in
patients
with
a
provisional
diagnosis
of
Cohen
syndrome
who
did
not
fulfill
the
diagnostic
criteria
(
"
Cohen-like
"
syndrome
)
.
This
study
provides
a
molecular
confirmation
of
the
clinical
phenotype
associated
with
Cohen
syndrome
and
provides
a
basis
for
laboratory
screening
that
will
be
valuable
in
its
diagnosis
.
Diseases
Validation
Diseases presenting
"often leads to an erroneous diagnosis and has led to confusion in the literature"
symptom
cohen syndrome
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