Rare Diseases Symptoms Automatic Extraction
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A random Abstract
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Microduplication of 3p25.2 encompassing RAF1 associated with congenital heart disease suggestive of Noonan syndrome.
[holt-oram syndrome]
Noonan
syndrome
(
NS
)
is
a
clinically
variable
and
genetically
heterogeneous
disorder
with
congenital
heart
defects
(
CHD
)
,
short
stature
,
and
craniofacial
dysmorphisms
.
Gain-of-function
mutations
in
RAF
1
can
cause
NS
and
the
highly
related
NS
with
multiple
lentigines
(
previously
known
as
LEOPARD
syndrome
)
.
Here
we
report
on
a
15
-
year
-old
male
with
NS
phenotype
:
short
stature
,
heart
defects
,
low
posterior
hairline
,
facial
malformations
,
malformed
left
ear
with
sensorineural
hearing
loss
,
widely
spaced
nipples
,
and
unilateral
upper
limb
anomaly
.
Using
high
-resolution
SNP
array
technology
,
we
identified
in
this
patient
a
0
.
25
Mb
microduplication
at
3
p
25
.
2
in
which
RAF
1
is
located
.
Sequence
analysis
did
not
identify
mutations
in
genes
associated
with
Holt-
Oram
syndrome
.
These
findings
suggest
that
duplications
of
genomic
regions
encompassing
RAF
1
could
cause
NS
and
are
consistent
with
the
notion
that
rare
copy
number
variations
encompassing
causative
genes
may
underlie
a
small
percentage
of
patients
with
syndromic
CHD
like
NS
.
Diseases
Validation
Diseases presenting
"low posterior hairline"
symptom
holt-oram syndrome
This symptom has already been validated