Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Deletions in the VPS13B (COH1) gene as a cause of Cohen syndrome.
[cohen syndrome]
Cohen
syndrome
is
an
autosomal
recessive
disorder
that
is
characterized
by
mental
retardation
,
facial
dysmorphism
,
microcephaly
,
retinal
dystrophy
,
truncal
obesity
,
joint
laxity
and
intermittent
neutropenia
.
Mutations
in
the
VPS
13
B
(
COH
1
)
gene
underlie
Cohen
syndrome
.
In
approximately
70
%
of
the
patients
mutations
in
the
gene
are
identified
on
both
alleles
,
while
in
about
30
%
only
a
mutation
in
a
single
allele
or
no
mutant
allele
is
detected
.
The
VPS
13
B
locus
was
recently
added
to
the
growing
list
of
benign
copy
number
variants
.
We
hypothesized
that
patients
with
unexplained
Cohen
syndrome
would
harbour
deletions
affecting
the
VPS
13
B
locus
.
We
screened
35
patients
from
26
families
with
targeted
array
CGH
and
identified
7
copy
number
alterations
:
2
homozygous
and
5
heterozygous
deletions
.
Our
results
show
that
deletions
are
an
important
cause
of
Cohen
syndrome
and
screening
for
copy
number
alterations
of
VPS
13
B
should
be
an
integral
part
of
the
diagnostic
work-up
of
these
patients
.
These
findings
have
important
consequences
for
the
diagnosis
of
patients
with
genetic
disorders
in
general
since
,
as
we
highlight
,
rare
benign
copy
number
variants
can
underly
autosomal
recessive
disorders
and
lead
to
disease
in
homozygous
state
or
in
compound
heterozygosity
with
another
mutation
.