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A novel de novo duplication mutation of PAX6 in a Chinese family with aniridia and other ocular abnormalities.
[aniridia]
Aniridia
is
a
congenital
panocular
disorder
caused
by
the
mutations
of
the
paired
box
gene
-
6
(
PAX
6
)
.
To
investigate
the
clinical
characterization
and
the
underlying
genetic
defect
in
a
Chinese
family
with
aniridia
and
other
ocular
abnormalities
,
we
recruited
the
family
members
who
underwent
ophthalmic
examination
.
Two
patients
in
this
family
,
the
proband
and
his
affected
son
,
both
have
bilateral
aniridia
,
foveal
hypoplasia
and
nystagmus
.
Moreover
,
the
proband
also
had
presenile
cataracts
,
but
his
affected
son
did
not
show
cataracts
at
the
time
of
examination
.
Sequencing
PAX
6
revealed
that
a
heterozygous
duplication
mutation
c
.
95
_
105
dup
11
,
predicted
to
generate
non-
functional
truncated
protein
at
position
Gly
36
(
p
.
G
36
X
)
,
was
found
in
the
affected
individuals
but
not
in
any
of
the
unaffected
family
members
including
the
parents
of
the
proband
.
Haplotype
analysis
showed
that
the
proband
and
his
affected
son
shared
a
common
disease-related
haplotype
,
which
was
arisen
from
the
proband
's
unaffected
father
through
crossing-over
.
In
conclusion
,
we
identified
a
novel
de
novo
duplication
mutation
of
PAX
6
in
the
aniridia
and
other
ocular
abnormalities
family
.
This
mutation
has
occurred
de
novo
on
a
paternal
chromosome
by
direct
duplication
,
which
presumably
results
from
replication
slippage
or
unequal
non-sister
chromatids
exchange
during
spermatogenesis
.
Diseases
Validation
Diseases presenting
"but his affected son did not show cataracts at the time of examination"
symptom
aniridia
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