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A random Abstract
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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
"pigmentary retinopathy"
symptom
cohen syndrome
This symptom has already been validated