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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
"psychomotor retardation"
symptom
alexander disease
aniridia
canavan disease
cohen syndrome
kabuki syndrome
monosomy 21
neonatal adrenoleukodystrophy
oculocutaneous albinism
pyruvate dehydrogenase deficiency
zellweger syndrome
This symptom has already been validated