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Cohen syndrome diagnosis using whole genome arrays.
[cohen syndrome]
Cohen
syndrome
is
a
rare
autosomal
recessive
disorder
with
a
complex
phenotype
including
psychomotor
retardation
,
microcephaly
,
obesity
with
slender
extremities
,
joint
laxity
,
progressive
chorioretinal
dystrophy
/
myopia
,
intermittent
isolated
neutropenia
,
a
cheerful
disposition
,
and
characteristic
facial
features
.
The
COH
1
gene
,
which
contains
62
exons
,
is
so
far
the
only
gene
known
to
be
associated
with
Cohen
syndrome
.
Point
mutations
,
deletions
and
duplications
have
been
described
in
this
gene
.
Oligonucleotide
arrays
have
reached
a
resolution
which
allows
the
detection
of
intragenic
deletions
and
duplications
,
especially
in
large
genes
such
as
COH
1
.
H
igh
density
oligonucleotide
array
data
from
patients
with
unexplained
mental
retardation
(
n
=
1523
)
and
normal
controls
(
n
=
1612
)
were
analysed
for
copy
number
variation
(
CNV
)
changes
.
Intragenic
heterozygous
deletions
in
the
COH
1
gene
were
detected
in
three
patients
but
no
such
changes
were
detected
in
the
controls
.
Subsequent
sequencing
of
the
COH
1
gene
revealed
point
mutations
in
the
second
allele
in
all
three
patients
analysed
.
Genome-
wide
CNV
screening
with
high
density
arrays
provides
a
tool
to
detect
intragenic
deletions
in
the
COH
1
gene
.
This
report
presents
an
example
of
how
microarrays
can
be
used
to
identify
autosomal
recessive
syndromes
and
to
extend
the
phenotypic
and
mutational
spectrum
of
recessive
disorders
.
Diseases
Validation
Diseases presenting
"high density arrays"
symptom
cohen syndrome
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