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DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics.
[oculocutaneous albinism]
Oculocutaneous
albinism
(
OCA
)
is
a
rare
genetic
disorder
of
melanin
synthesis
that
results
in
hypopigmented
hair
,
skin
,
and
eyes
.
There
are
four
types
of
OCA
caused
by
mutations
in
TYR
(
OCA
-
1
)
,
OCA
2
(
OCA
-
2
)
,
TYRP
1
(
OCA
-
3
)
,
or
SLC
45
A
2
(
OCA
-
4
)
.
Here
we
report
22
novel
mutations
in
the
OCA
genes
;
14
from
a
cohort
of
61
patients
seen
as
part
of
the
NIH
OCA
Natural
History
Study
and
eight
from
a
prior
study
at
the
University
of
Minnesota
.
We
also
include
a
comprehensive
list
of
almost
600
previously
reported
OCA
mutations
along
with
ethnicity
information
,
carrier
frequencies
,
and
in
silico
pathogenicity
predictions
as
a
supplement
.
In
addition
to
discussing
the
clinical
and
molecular
features
of
OCA
,
we
address
the
cases
of
apparent
missing
heritability
.
In
our
cohort
,
26
%
of
patients
did
not
have
two
mutations
in
a
single
OCA
gene
.
We
demonstrate
the
utility
of
multiple
detection
methods
to
reveal
mutations
missed
by
Sanger
sequencing
.
Finally
,
we
review
the
TYR
p
.
R
402
Q
temperature-sensitive
variant
and
confirm
its
association
with
cases
of
albinism
with
only
one
identifiable
TYR
mutation
.
Diseases
Validation
Diseases presenting
"skin"
symptom
cowden syndrome
fabry disease
oculocutaneous albinism
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