Rare Diseases Symptoms Automatic Extraction
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A random Abstract
Our Project
Our Team
A novel VPS13B mutation in two brothers with Cohen syndrome, cutis verticis gyrata and sensorineural deafness.
[cohen syndrome]
We
have
earlier
described
a
syndrome
characterized
by
microcephaly
,
cutis
verticis
gyrata
,
retinitis
pigmentosa
,
cataracts
,
hearing
loss
and
mental
retardation
(
Mendelian
inheritance
in
man
(
MIM
)
no
:
605685
)
in
two
brothers
from
a
non-consanguineous
Lebanese
family
.
In
view
of
the
rarity
of
the
disorder
and
the
high
rate
of
inbreeding
in
the
Lebanese
population
,
we
assumed
an
autosomal
recessive
trait
inherited
from
a
common
ancestor
.
A
genomewide
scan
was
performed
.
The
single
locus
on
the
long
arm
of
chromosome
8
that
showed
homozygosity
by
descent
comprised
the
gene
responsible
for
Cohen
syndrome
(
CS
)
,
VPS
13
B
.
We
then
sequenced
VPS
13
B
in
the
patients
and
found
a
homozygous
splice
site
mutation
.
Several
possible
explanations
for
the
overlap
between
CS
and
the
clinical
features
observed
in
our
patients
are
discussed
.
Our
data
highlight
the
potential
of
high
-resolution
homozygosity
mapping
in
small
populations
with
a
high
rate
of
inbreeding
.
Diseases
Validation
Diseases presenting
"hearing loss"
symptom
22q11.2 deletion syndrome
achondroplasia
adrenomyeloneuropathy
alexander disease
benign recurrent intrahepatic cholestasis
canavan disease
cohen syndrome
congenital toxoplasmosis
dentinogenesis imperfecta
fabry disease
familial mediterranean fever
heparin-induced thrombocytopenia
hirschsprung disease
holt-oram syndrome
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
kabuki syndrome
kallmann syndrome
neonatal adrenoleukodystrophy
pendred syndrome
von hippel-lindau disease
wolf-hirschhorn syndrome
This symptom has already been validated