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The role of Frizzled-4 mutations in familial exudative vitreoretinopathy and Coats disease.
[coats disease]
The
aim
of
this
study
is
to
assess
the
role
of
Frizzled-
4
(
FZD
4
)
in
familial
exudative
vitreoretinopathy
(
FEVR
)
and
Coats
disease
.
Tissue
samples
were
collected
for
DNA
extraction
and
automated
DNA
sequencing
of
the
two
coding
exons
of
FZD
4
in
both
directions
.
Cases
carrying
a
FZD
4
mutation
and
demonstrating
extreme
disease
severity
were
selected
for
direct
automated
sequencing
of
all
coding
exons
of
LRP
5
,
NDP
and
TSPAN
12
.
Clinical
data
were
obtained
for
the
purpose
of
identifying
genotype-phenotype
correlations
.
68
probands
were
diagnosed
as
having
autosomal
dominant
or
sporadic
FEVR
.
Eleven
FZD
4
mutations
(
five
missense
,
three
deletions
,
one
insertion
,
two
nonsense
)
were
identified
.
Six
of
these
mutations
are
novel
,
and
none
were
found
in
346
control
chromosomes
.
In
16
cases
of
Coats
disease
,
one
polymorphism
combination
was
found
in
two
samples
:
no
mutations
were
detected
.
No
genotype-phenotype
correlation
emerged
.
Three
severely
affected
cases
with
FZD
4
mutations
failed
to
show
additional
mutations
in
the
three
other
FEVR
genes
.
The
authors
identified
12
FEVR
probands
with
FZD
4
mutations
.
FZD
4
mutation
screening
can
be
a
useful
tool
especially
in
mild
or
atypical
cases
of
FEVR
.
Germ-line
mutations
in
FZD
4
do
not
appear
to
be
a
common
cause
of
Coats
disease
.
Diseases
Validation
Diseases presenting
"common cause"
symptom
achondroplasia
acute rheumatic fever
adrenomyeloneuropathy
allergic bronchopulmonary aspergillosis
alpha-thalassemia
aniridia
aromatase deficiency
benign recurrent intrahepatic cholestasis
cadasil
child syndrome
coats disease
congenital adrenal hyperplasia
congenital toxoplasmosis
cushing syndrome
erdheim-chester disease
esophageal adenocarcinoma
esophageal squamous cell carcinoma
fabry disease
familial hypocalciuric hypercalcemia
hydrocephalus with stenosis of the aqueduct of sylvius
inclusion body myositis
junctional epidermolysis bullosa
kabuki syndrome
lamellar ichthyosis
legionellosis
liposarcoma
locked-in syndrome
malignant atrophic papulosis
neonatal adrenoleukodystrophy
neuralgic amyotrophy
pendred syndrome
primary hyperoxaluria type 1
pyruvate dehydrogenase deficiency
scrub typhus
systemic capillary leak syndrome
thoracic outlet syndrome
typhoid
von hippel-lindau disease
wiskott-aldrich syndrome
zellweger syndrome
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