Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
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
"high percentage"
symptom
cholangiocarcinoma
cohen syndrome
congenital toxoplasmosis
cystinuria
familial mediterranean fever
lamellar ichthyosis
neonatal adrenoleukodystrophy
trochlear dysplasia
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom