Rare Diseases Symptoms Automatic Extraction
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A random Abstract
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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
"mental retardation"
symptom
achondroplasia
alexander disease
alpha-thalassemia
aniridia
aromatase deficiency
canavan disease
classical phenylketonuria
coats disease
cohen syndrome
cowden syndrome
cystinuria
dentin dysplasia
familial hypocalciuric hypercalcemia
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
kabuki syndrome
kallmann syndrome
lamellar ichthyosis
lymphangioleiomyomatosis
monosomy 21
phenylketonuria
primary hyperoxaluria type 1
proteus syndrome
pyruvate dehydrogenase deficiency
sneddon syndrome
triple a syndrome
wolf-hirschhorn syndrome
zellweger syndrome
This symptom has already been validated