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Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transport.
[cohen syndrome]
Cohen
syndrome
is
an
uncommon
autosomal
recessive
disorder
whose
diagnosis
is
based
on
the
clinical
picture
of
nonprogressive
psychomotor
retardation
and
microcephaly
,
characteristic
facial
features
,
retinal
dystrophy
,
and
intermittent
neutropenia
.
We
have
refined
the
critical
region
on
chromosome
8
q
22
by
haplotype
analysis
,
and
we
report
the
characterization
of
a
novel
gene
,
COH
1
,
that
is
mutated
in
patients
with
Cohen
syndrome
.
The
longest
transcript
(
14
,
093
bp
)
is
widely
expressed
and
is
transcribed
from
62
exons
that
span
a
genomic
region
of
approximately
864
kb
.
COH
1
encodes
a
putative
transmembrane
protein
of
4
,
022
amino
acids
,
with
a
complex
domain
structure
.
Homology
to
the
Saccharomyces
cerevisiae
VPS
13
protein
suggests
a
role
for
COH
1
in
vesicle-mediated
sorting
and
transport
of
proteins
within
the
cell
.
Diseases
Validation
Diseases presenting
"nonprogressive psychomotor retardation"
symptom
cohen syndrome
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