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Multiple congenital malformations of Wolf-Hirschhorn syndrome are recapitulated in Fgfrl1 null mice.
[wolf-hirschhorn syndrome]
Wolf-
Hirschhorn
syndrome
(
WHS
)
is
caused
by
deletions
in
the
short
arm
of
chromosome
4
(
4
p
)
and
occurs
in
about
one
per
20
,
000
births
.
Patients
with
WHS
display
a
set
of
highly
variable
characteristics
including
craniofacial
dysgenesis
,
mental
retardation
,
speech
problems
,
congenital
heart
defects
,
short
stature
and
a
variety
of
skeletal
anomalies
.
Analysis
of
patients
with
4
p
deletions
has
identified
two
WHS
critical
regions
(
WHSCRs
)
;
however
,
deletions
targeting
mouse
WHSCRs
do
not
recapitulate
the
classical
WHS
defects
,
and
the
genes
contributing
to
WHS
have
not
been
conclusively
established
.
Recently
,
the
human
FGFRL
1
gene
,
encoding
a
putative
fibroblast
growth
factor
(
FGF
)
decoy
receptor
,
has
been
implicated
in
the
craniofacial
phenotype
of
a
WHS
patient
.
Here
,
we
report
that
targeted
deletion
of
the
mouse
Fgfrl
1
gene
recapitulates
a
broad
array
of
WHS
phenotypes
,
including
abnormal
craniofacial
development
,
axial
and
appendicular
skeletal
anomalies
,
and
congenital
heart
defects
.
Fgfrl
1
null
mutants
also
display
a
transient
foetal
anaemia
and
a
fully
penetrant
diaphragm
defect
,
causing
prenatal
and
perinatal
lethality
.
Together
,
these
data
support
a
wider
role
for
Fgfrl
1
in
development
,
implicate
FGFRL
1
insufficiency
in
WHS
,
and
provide
a
novel
animal
model
to
dissect
the
complex
aetiology
of
this
human
disease
.
Diseases
Validation
Diseases presenting
"complex aetiology of this human disease"
symptom
wolf-hirschhorn syndrome
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