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Functional characterization of two novel splicing mutations in the OCA2 gene associated with oculocutaneous albinism type II.
[oculocutaneous albinism]
Oculocutaneous
albinism
(
OCA
)
is
characterized
by
hypopigmentation
of
the
skin
,
hair
and
eye
,
and
by
ophthalmologic
abnormalities
caused
by
a
deficiency
in
melanin
biosynthesis
.
OCA
type
II
(
OCA
2
)
is
one
of
the
four
commonly-recognized
forms
of
albinism
,
and
is
determined
by
mutation
in
the
OCA
2
gene
.
In
the
present
study
,
we
investigated
the
molecular
basis
of
OCA
2
in
two
siblings
and
one
unrelated
patient
.
The
mutational
screening
of
the
OCA
2
gene
identified
two
hitherto-unknown
putative
splicing
mutations
.
The
first
one
(
c
.
1503
+
5
G
>
A
)
,
identified
in
an
Italian
proband
and
her
affected
sibling
,
lies
in
the
consensus
sequence
of
the
donor
splice
site
of
OCA
2
intron
14
(
IVS
14
+
5
G
>
A
)
,
in
compound
heterozygosity
with
a
frameshift
mutation
,
c
.
1450
_
1451
insCTGCCCTGACA
,
which
is
predicted
to
determine
the
premature
termination
of
the
polypeptide
chain
(
p
.
I
484
Tfs
*
19
)
.
In-silico
prediction
of
the
effect
of
the
IVS
14
+
5
G
>
A
mutation
on
splicing
showed
a
score
reduction
for
the
mutant
splice
site
and
indicated
the
possible
activation
of
a
newly-created
deep
-intronic
acceptor
splice
site
.
The
second
mutation
is
a
synonymous
transition
(
c
.
2139
G
>
A
,
p
.
K
713
K
)
involving
the
last
nucleotide
of
exon
20
.
This
mutation
was
found
in
a
young
African
albino
patient
in
compound
heterozygosity
with
a
previously-reported
OCA
2
missense
mutation
(
p
.
T
404
M
)
.
In-silico
analysis
predicted
that
the
mutant
c
.
2139
G
>
A
allele
would
result
in
the
abolition
of
the
splice
donor
site
.
The
effects
on
splicing
of
these
two
novel
mutations
were
investigated
using
an
in
-vitro
hybrid-minigene
approach
that
led
to
the
demonstration
of
the
causal
role
of
the
two
mutations
and
to
the
identification
of
aberrant
transcript
variants
.
Diseases
Validation
Diseases presenting
"a deficiency in melanin biosynthesis"
symptom
oculocutaneous albinism
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