Rare Diseases Symptoms Automatic Extraction
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PAX6 mutations identified in 4 of 35 families with microcornea.
[aniridia]
Mutations
in
paired
box
gene
6
(
PAX
6
)
are
the
major
cause
of
aniridia
that
may
associate
with
several
other
developmental
anomalies
of
the
eye
,
including
microcornea
in
rare
cases
.
However
,
systemic
evaluation
of
PAX
6
in
patients
with
microcornea
as
the
major
sign
has
not
been
reported
.
This
study
aims
to
detect
PAX
6
mutations
in
patients
with
microcornea
.
Genomic
DNA
of
probands
was
prepared
from
35
families
with
microcornea
.
The
coding
regions
of
PAX
6
were
screened
by
Sanger
sequencing
and
novel
variations
were
further
evaluated
in
192
normal
individuals
.
Bioinformatics
analysis
was
used
to
evaluate
the
structural
consequences
related
to
the
pathology
of
the
mutations
.
The
average
corneal
horizontal
diameter
of
the
35
probands
is
8
.
03
±
1
.
27
mm
(
the
median
value
is
8
mm
)
.
Among
them
,
eight
patients
presented
with
normal
iris
,
one
had
aniridia
,
and
different
severities
of
iris
hypoplasia
were
detected
in
the
rest
.
In
four
probands
,
three
heterozygous
variations
in
PAX
6
were
identified
:
a
novel
c
.
83
_
85
delAGA
(
p
.
Lys
28
del
)
in
two
families
;
a
novel
c
.
337
G
>
C
(
p
.
Ala
113
Pro
)
in
one
family
;
and
a
known
c
.
399
_
399
+
5
del
6
in
one
family
.
None
of
the
variations
were
detected
in
192
normal
individuals
.
Two
of
the
four
probands
had
partial
iris
while
the
other
two
presented
with
full
iris
.
We
identified
two
novel
and
a
known
mutation
of
PAX
6
in
four
probands
with
microcornea
,
accounting
for
11
.
4
%
of
microcorneas
in
this
cohort
.
The
findings
not
only
expand
the
spectrum
of
PAX
6
mutations
,
but
also
suggest
that
PAX
6
mutations
may
be
a
common
cause
of
microcornea
.
Diseases
Validation
Diseases presenting
"aniridia"
symptom
aniridia
kabuki syndrome
oculocutaneous albinism
This symptom has already been validated
