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Two novel tyrosinase (TYR) gene mutations with pathogenic impact on oculocutaneous albinism type 1 (OCA1).
[oculocutaneous albinism]
Oculocutaneous
albinism
(
OCA
)
is
a
heterogeneous
group
of
autosomal
recessive
disorders
resulting
from
mutations
of
the
tyrosinase
(
TYR
)
gene
and
presents
with
either
complete
or
partial
absence
of
pigment
in
the
skin
,
hair
and
eyes
due
to
a
defect
in
an
enzyme
involved
in
the
production
of
melanin
.
In
this
study
,
mutations
in
the
TYR
gene
of
30
unrelated
Iranian
OCA
1
patients
and
100
healthy
individuals
were
examined
using
PCR-sequencing
.
Additionally
,
in
order
to
predict
the
possible
effects
of
new
mutations
on
the
structure
and
function
of
tyrosinase
,
these
mutations
were
analyzed
by
SIFT
,
PolyPhen
and
I
-Mutant
2
software
.
Here
,
two
new
pathogenic
p
.
C
89
S
and
p
.
H
180
R
mutations
were
detected
in
two
OCA
1
patients
.
Moreover
,
the
R
402
Q
and
S
192
Y
variants
,
which
are
common
non-pathogenic
polymorphisms
,
were
detected
in
17
.
5
%
and
35
%
of
the
patients
,
respectively
.
The
outcome
of
this
study
has
extended
the
genotypic
spectrum
of
OCA
1
patients
,
which
paves
the
way
for
more
efficient
carrier
detection
and
genetic
counseling
.
Diseases
Validation
Diseases presenting
"presents with either complete or partial absence of pigment in the skin"
symptom
oculocutaneous albinism
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