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11p13 deletions can be more frequent than the PAX6 gene point mutations in Polish patients with aniridia.
[aniridia]
Aniridia
is
a
rare
,
bilateral
,
congenital
ocular
disorder
causing
incomplete
formation
of
the
iris
,
usually
characterized
by
iris
aplasia
/
hypoplasia
.
It
can
also
appear
with
other
ocular
anomalies
,
such
as
cataracts
,
glaucoma
,
corneal
pannus
,
optic
nerve
hypoplasia
,
macular
hypoplasia
,
or
ectopia
lentis
.
In
the
majority
of
cases
,
it
is
caused
by
mutation
in
the
PAX
6
gene
,
but
it
can
also
be
caused
by
microdeletions
that
involve
the
11
p
13
region
.
Twelve
unrelated
patients
of
Polish
origin
with
a
clinical
diagnosis
of
aniridia
were
screened
for
the
presence
of
microdeletions
in
the
11
p
13
region
by
means
of
multiplex
ligation
probe
amplification
(
MLPA
)
.
Additionally
,
the
coding
regions
of
the
PAX
6
gene
were
sequenced
in
all
probands
.
MLPA
examination
revealed
different
size
deletions
of
the
11
p
13
region
in
five
patients
.
In
three
cases
,
deletions
encompassed
the
entire
PAX
6
gene
and
a
few
adjacent
genes
.
In
one
case
,
a
fragment
of
the
PAX
6
gene
was
deleted
only
.
In
the
final
case
,
the
deletion
did
not
include
any
PAX
6
sequence
.
Our
molecular
findings
provide
further
evidence
of
the
existence
of
the
distant
3
'
regulatory
elements
in
the
downstream
region
of
the
PAX
6
gene
,
which
is
known
from
other
studies
to
influence
the
level
of
protein
expression
.
Sequence
analysis
of
the
PAX
6
gene
revealed
the
three
different
point
mutations
in
the
remaining
four
patients
with
aniridia
.
All
the
detected
mutations
were
reported
earlier
.
Based
on
accomplished
results
,
the
great
diversity
of
the
molecular
basis
of
aniridia
was
found
.
It
varies
from
point
mutations
to
different
size
deletions
in
the
11
p
13
region
which
encompass
partly
or
completely
the
PAX
6
gene
or
cause
a
position
effect
.
Diseases
Validation
Diseases presenting
"but it can also be caused by microdeletions that involve the 11p13 region"
symptom
aniridia
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