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L1CAM whole gene deletion in a child with L1 syndrome.
[hydrocephalus with stenosis of the aqueduct of sylvius]
L
1
syndrome
is
a
group
of
overlapping
,
X-
linked
disorders
caused
by
mutations
in
L
1
CAM
.
Clinical
phenotypes
within
L
1
syndrome
include
X-
linked
hydrocephalus
with
stenosis
of
the
aqueduct
of
sylvius
(
HSAS
)
;
mental
retardation
,
adducted
thumbs
,
shuffling
gait
,
and
aphasia
(
MASA
)
syndrome
;
spastic
paraplegia
type
1
;
and
agenesis
of
the
corpus
callosum
.
Over
200
mutations
in
L
1
CAM
have
been
reported
;
however
,
only
a
few
large
gene
deletions
have
been
observed
.
We
report
on
a
4
-
month
-old
male
with
a
de
novo
whole
gene
deletion
of
L
1
CAM
presenting
with
congenital
hydrocephalus
,
aqueductal
stenosis
,
and
adducted
thumbs
.
Initial
failure
of
L
1
CAM
gene
sequencing
suggested
the
possibility
of
a
whole
gene
deletion
of
L
1
CAM
.
Further
investigation
through
chromosome
microarray
analysis
showed
a
62
Kb
deletion
encompassing
the
first
exon
of
the
PDZD
4
gene
and
the
entire
L
1
CAM
gene
.
Investigations
into
genotype-phenotype
correlations
have
suggested
that
mutations
leading
to
truncated
or
absent
L
1
protein
cause
more
severe
forms
of
L
1
syndrome
.
Based
on
the
presentation
of
the
proband
and
other
reported
patients
with
whole
gene
deletions
,
we
provide
further
evidence
that
L
1
CAM
whole
gene
deletions
result
in
L
1
syndrome
with
a
severe
phenotype
,
deletions
of
PDZD
4
do
not
cause
additional
manifestations
,
and
that
X-
linked
nephrogenic
diabetes
insipidus
reported
in
a
subset
of
patients
with
large
L
1
CAM
deletions
results
from
the
loss
of
AVPR
2
.
Diseases
Validation
Diseases presenting
"linked hydrocephalus with stenosis of the aqueduct"
symptom
hydrocephalus with stenosis of the aqueduct of sylvius
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