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Cohen syndrome in the Ohio Amish.
[cohen syndrome]
We
describe
eight
members
from
two
large
Amish
kindreds
who
share
a
phenotype
characterized
by
early
-onset
pigmentary
retinopathy
and
myopia
,
global
developmental
delay
and
mental
retardation
,
microcephaly
,
short
stature
,
hypotonia
,
joint
hyperextensibility
,
small
hands
and
feet
,
common
facial
appearance
,
and
friendly
disposition
.
Several
of
the
children
had
intermittent
granulocytopenia
.
The
phenotypic
occurrence
in
three
siblings
coupled
with
the
increased
coefficient
of
inbreeding
in
the
Amish
suggested
that
this
disorder
is
autosomal
recessive
and
due
to
a
single
founder
allele
.
Despite
similarity
to
the
clinical
features
of
Cohen
syndrome
,
experienced
dysmorphologists
attending
the
23rd
David
W
.
Smith
Workshop
suggested
the
facial
gestalt
of
the
Amish
children
was
inconsistent
with
this
diagnosis
.
We
mapped
the
locus
responsible
for
these
individuals
'
phenotype
to
chromosome
8
q
22
-
q
23
,
which
contains
the
recently
discovered
Cohen
syndrome
gene
,
COH
1
.
Complete
sequencing
of
the
COH
1
gene
identified
a
likely
disease-causing
frameshift
mutation
and
a
missense
mutation
in
the
Amish
patients
.
A
comparison
of
features
among
different
Cohen
syndrome
populations
with
shared
linkage
to
the
COH
1
locus
or
known
COH
1
gene
mutations
may
allow
for
the
determination
of
improved
clinical
criteria
on
which
to
suspect
the
diagnosis
of
Cohen
syndrome
.
We
conclude
that
facial
gestalt
seems
to
be
an
unreliable
indicator
of
Cohen
syndrome
between
ethnic
populations
,
although
it
is
quite
consistent
among
affected
individuals
within
a
particular
ethnic
group
.
Other
features
common
to
almost
all
individuals
with
proven
COH
1
mutations
,
such
as
retinal
dystrophy
,
myopia
,
microcephaly
,
mental
retardation
,
global
developmental
delay
,
hypotonia
,
and
joint
hyperextensibility
appear
to
be
better
clinical
indicators
of
this
disorder
.
Diseases
Validation
Diseases presenting
"likely disease-causing frameshift mutation"
symptom
cohen syndrome
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