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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
"mental retardation"
symptom
achondroplasia
alexander disease
alpha-thalassemia
aniridia
aromatase deficiency
canavan disease
classical phenylketonuria
coats disease
cohen syndrome
cowden syndrome
cystinuria
dentin dysplasia
familial hypocalciuric hypercalcemia
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
kabuki syndrome
kallmann syndrome
lamellar ichthyosis
lymphangioleiomyomatosis
monosomy 21
phenylketonuria
primary hyperoxaluria type 1
proteus syndrome
pyruvate dehydrogenase deficiency
sneddon syndrome
triple a syndrome
wolf-hirschhorn syndrome
zellweger syndrome
This symptom has already been validated