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Evidence for genetic heterogeneity in Carvajal syndrome.
[oligodontia]
Carvajal
syndrome
is
a
rare
syndrome
with
woolly
hair
,
palmoplantar
keratosis
and
dilated
cardiomyopathy
.
The
inheritance
of
the
mutation
is
autosomal
recessive
.
As
a
causal
gene
,
the
desmoplakin
gene
(
DSP
)
has
so
far
been
identified
;
it
encodes
an
essential
component
of
desmosomes
,
a
cell-cell
structure
aimed
at
keeping
cells
attached
to
each
other
in
tissues
in
which
cells
are
often
exposed
to
strong
shear
forces
.
Recently
,
familial
cases
of
an
autosomal
dominant
Carvajal
syndrome
were
documented
with
a
new
feature
:
hypo
/
oligodontia
.
A
mutation
in
the
DSP
gene
was
also
evidenced
in
these
latter
cases
.
A
patient
was
seen
for
cardiogenetic
consultation
at
the
University
Hospital
of
Lyon
with
cardiac
failure
involving
first
degree
atrioventricular
block
,
complete
left
bundle
branch
block
,
non-compaction
of
the
apex
of
the
left
ventricle
and
a
dilated
cardiomyopathy
.
A
coronarography
disclosed
a
complete
thrombosis
of
the
right
coronary
artery
.
At
examination
,
he
had
also
woolly
hair
,
mild
palmoplantar
keratosis
and
missing
teeth
(
essentially
molars
and
premolars
)
.
His
family
history
was
uninformative
.
His
DNA
was
screened
for
mutations
in
the
DSP
and
plakoglobin
genes
but
no
mutation
could
be
found
.
This
case
suggests
that
Carvajal
syndrome
with
hypo
/
oligodontia
is
a
heterogeneous
condition
in
which
genes
other
than
DSP
might
be
involved
,
although
we
can
not
rule
out
a
mutation
in
this
gene
consisting
in
a
deletion
of
a
single
exon
or
a
gene
rearrangement
.
Diseases
Validation
Diseases presenting
"first degree atrioventricular block"
symptom
oligodontia
This symptom has already been validated