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Exome sequencing identifies SLC24A5 as a candidate gene for nonsyndromic oculocutaneous albinism.
[oculocutaneous albinism]
Oculocutaneous
albinism
(
OCA
)
is
a
heterogeneous
and
autosomal
recessive
disorder
with
hypopigmentation
in
the
eye
,
hair
,
and
skin
color
.
Four
genes
,
TYR
,
OCA
2
,
TYRP
1
,
and
SLC
45
A
2
,
have
been
identified
as
causative
genes
for
nonsyndromic
OCA
1
-
4
,
respectively
.
The
genetic
identity
of
OCA
5
locus
on
4
q
24
is
unknown
.
Additional
unknown
OCA
genes
may
exist
as
at
least
5
%
of
OCA
patients
have
not
been
characterized
during
mutational
screening
in
several
populations
.
We
used
exome
sequencing
with
a
family-based
recessive
mutation
model
to
determine
that
SLC
24
A
5
is
a
previously
unreported
candidate
gene
for
nonsyndromic
OCA
,
which
we
designate
as
OCA
6
.
Two
deleterious
mutations
in
this
patient
,
c
.
591
G
>
A
and
c
.
1361
insT
,
were
identified
.
We
found
apparent
increase
of
immature
melanosomes
and
less
mature
melanosomes
in
the
patient
's
skin
melanocytes
.
However
,
no
defects
in
the
platelet
dense
granules
were
observed
,
excluding
typical
Hermansky-
Pudlak
syndrome
(
HPS
)
,
a
well-known
syndromic
OCA
.
Moreover
,
the
SLC
24
A
5
protein
was
reduced
in
steady-
state
levels
in
mouse
HPS
mutants
with
deficiencies
in
BLOC-
1
and
BLOC-
2
.
Our
results
suggest
that
SLC
24
A
5
is
a
previously
unreported
nonsyndromic
OCA
candidate
gene
and
that
the
SLC
24
A
5
transporter
is
transported
into
mature
melanosomes
by
HPS
protein
complexes
.
Diseases
Validation
Diseases presenting
"skin melanocytes"
symptom
oculocutaneous albinism
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