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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
"atypical cases"
symptom
coats disease
congenital toxoplasmosis
dentin dysplasia
erythropoietic protoporphyria
heparin-induced thrombocytopenia
omenn syndrome
papillon-lefèvre syndrome
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