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High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndrome.
[cohen syndrome]
Cohen
syndrome
is
a
rare
,
clinically
variable
autosomal
recessive
disorder
characterized
by
mental
retardation
,
postnatal
microcephaly
,
facial
dysmorphisms
,
ocular
abnormalities
and
intermittent
neutropenia
.
Mutations
in
the
COH
1
gene
have
been
found
in
patients
from
different
ethnic
origins
.
However
,
a
high
percentage
of
patients
have
only
one
or
no
mutated
allele
.
To
investigate
whether
COH
1
copy
number
changes
account
for
missed
mutations
,
we
used
multiplex
ligation-dependent
probe
amplification
(
MLPA
)
to
test
a
group
of
14
patients
with
Cohen
syndrome
.
This
analysis
has
allowed
us
to
identify
multi-exonic
deletions
in
11
alleles
and
duplications
in
4
alleles
.
Considering
our
previous
study
,
COH
1
copy
number
variations
represent
42
%
of
total
mutated
alleles
.
To
our
knowledge
,
COH
1
intragenic
duplications
have
never
been
reported
in
Cohen
syndrome
.
The
three
duplications
encompassed
exons
4
-
13
,
20
-
30
and
57
-
60
,
respectively
.
Interestingly
,
four
deletions
showed
the
same
exon
coverage
(
exons
6
-
16
)
with
respect
to
a
deletion
recently
reported
in
a
large
Greek
consanguineous
family
.
Haplotype
analysis
suggested
a
possible
founder
effect
in
the
Mediterranean
basin
.
The
use
of
MLPA
was
therefore
crucial
in
identifying
mutated
alleles
undetected
by
traditional
techniques
and
in
defining
the
extent
of
the
deletions
/
duplications
.
Given
the
high
percentage
of
identified
copy
number
variations
,
we
suggest
that
this
technique
could
be
used
as
the
initial
screening
method
for
molecular
diagnosis
of
Cohen
syndrome
.
Diseases
Validation
Diseases presenting
"ocular abnormalities and intermittent neutropenia"
symptom
cohen syndrome
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