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A novel mutation of PAX6 identified in a Chinese twin family with congenital aniridia complicated with nystagmus.
[aniridia]
Genetic
variations
within
the
paired
box
gene
6
(
PAX
6
)
gene
are
associated
with
congenital
aniridia
.
To
detect
the
genetic
defects
in
a
Chinese
twin
family
with
congenital
aniridia
and
nystagmus
,
exons
of
PAX
6
were
amplified
by
polymerase
chain
reaction
(
PCR
)
,
sequenced
and
compared
with
a
reference
database
.
Six
members
from
the
family
of
three
generations
were
included
in
the
study
.
The
twins
'
father
presented
with
congenital
aniridia
,
nystagmus
and
cataract
at
birth
,
while
the
twins
presented
with
congenital
aniridia
and
nystagmus
.
A
novel
mutation
c
.
888
insA
in
exon
10
of
PAX
6
was
identified
in
all
affected
individuals
.
This
study
suggests
that
the
novel
mutation
c
.
888
insA
is
likely
responsible
for
the
pathogenesis
of
the
congenital
aniridia
and
nystagmus
in
this
pedigree
.
To
the
best
of
our
knowledge
,
this
is
the
first
report
of
this
mutation
in
PAX
6
gene
in
pedigree
with
aniridia
.
Furthermore
,
no
PAX
6
gene
defect
was
reported
in
twins
with
congenital
aniridia
.
Diseases
Validation
Diseases presenting
"congenital aniridia"
symptom
aniridia
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