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Allelic heterogeneity in the COH1 gene explains clinical variability in Cohen syndrome.
[cohen syndrome]
Cohen
syndrome
is
a
rare
autosomal
recessive
disorder
with
a
variable
clinical
picture
mainly
characterized
by
developmental
delay
,
mental
retardation
,
microcephaly
,
typical
facial
dysmorphism
,
progressive
pigmentary
retinopathy
,
severe
myopia
,
and
intermittent
neutropenia
.
A
Cohen
syndrome
locus
was
mapped
to
chromosome
8
q
22
in
Finnish
patients
,
and
,
recently
,
mutations
in
the
gene
COH
1
were
reported
in
patients
with
Cohen
syndrome
from
Finland
and
other
parts
of
northern
and
western
Europe
.
Here
,
we
describe
clinical
and
molecular
findings
in
20
patients
with
Cohen
syndrome
from
12
families
,
originating
from
Brazil
,
Germany
,
Lebanon
,
Oman
,
Poland
,
and
Turkey
.
All
patients
were
homozygous
or
compound
heterozygous
for
mutations
in
COH
1
.
We
identified
a
total
of
17
novel
mutations
,
mostly
resulting
in
premature
termination
codons
.
The
clinical
presentation
was
highly
variable
.
Developmental
delay
of
varying
degree
,
early
-onset
myopia
,
joint
laxity
,
and
facial
dysmorphism
were
the
only
features
present
in
all
patients
;
however
,
retinopathy
at
school
age
,
microcephaly
,
and
neutropenia
are
not
requisite
symptoms
of
Cohen
syndrome
.
The
identification
of
novel
mutations
in
COH
1
in
an
ethnically
diverse
group
of
patients
demonstrates
extensive
allelic
heterogeneity
and
explains
the
intriguing
clinical
variability
in
Cohen
syndrome
.
Diseases
Validation
Diseases presenting
"premature termination codons"
symptom
cohen syndrome
dystrophic epidermolysis bullosa
harlequin ichthyosis
homocystinuria without methylmalonic aciduria
junctional epidermolysis bullosa
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