Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1.
[cohen syndrome]
Cohen
syndrome
is
characterised
by
mental
retardation
,
postnatal
microcephaly
,
facial
dysmorphism
,
pigmentary
retinopathy
,
myopia
,
and
intermittent
neutropenia
.
Mutations
in
COH
1
(
VPS
13
B
)
have
been
found
in
patients
with
Cohen
syndrome
from
diverse
ethnic
origins
.
We
have
carried
out
mutation
analysis
in
twelve
novel
patients
with
Cohen
syndrome
from
nine
families
.
In
this
series
,
we
have
identified
13
different
mutations
in
COH
1
,
twelve
of
these
are
novel
including
six
frameshift
mutations
,
four
nonsense
mutations
,
two
splice
site
mutations
,
and
a
one
-codon
deletion
.
Since
different
transcripts
of
COH
1
have
been
reported
previously
,
we
have
analysed
the
expression
patterns
of
COH
1
splice
variants
.
The
transcript
variant
NM
_
152564
including
exon
28
b
showed
ubiquitous
expression
in
all
examined
human
tissues
.
In
contrast
,
human
brain
and
retina
showed
differential
splicing
of
exon
28
(
NM
_
017890
)
.
Moreover
,
analysis
of
mouse
tissues
revealed
ubiquitous
expression
of
Coh
1
homologous
to
human
NM
_
152564
in
all
examined
tissues
but
no
prevalent
alternative
splicing
.
Diseases
Validation
Diseases presenting
"human brain and retina showed differential splicing of exon 28"
symptom
cohen syndrome
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom