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Functional associations of genetic variants involved in the clinical manifestation of erythropoietic protoporphyria in the Argentinean population.
[erythropoietic protoporphyria]
Combined
inheritance
of
genetic
variants
in
ferrochelatase
gene
(
FECH
)
are
implicated
in
clinical
manifestation
of
Erythropoietic
Protoporphyria
(
EPP
)
.
Identify
the
genetic
variants
in
FECH
gene
and
their
associations
in
the
expression
of
EPP
in
Argentina
.
Determine
the
allelic
frequency
of
polymorphic
variants
,
associations
in
cis
and
its
linkage
disequilibrium
.
The
FECH
gene
was
PCR-amplified
and
sequenced
.
Allelic
variants
of
intragenic
polymorphisms
were
identified
by
PCR
followed
by
sequencing
or
restriction
digestion
analysis
.
Residual
FECH
activity
was
determined
by
prokaryotic
expression
in
Escherichia
coli
JM
109
.
Data
were
analyzed
using
Haploview
and
Statistix
9
.
Ten
mutations
were
identified
:
three
novel
(
p
.
S
222
N
;
p
.
R
298
X
and
p
.
R
367
X
)
and
seven
already
known
(
g
.
12490
_
18067
del
;
p
.
R
115
X
;
p
.
I
186
T
;
c
.
580
_
584
delTACAG
;
c
.
598
+
1
G
>
T
;
p
.
Y
209
X
and
p
.
W
310
X
)
.
The
p
.
R
115
X
mutation
was
found
in
two
families
.
The
p
.
S
222
N
mutation
expressed
5
%
of
normal
activity
.
Only
individuals
who
inherited
a
mutation
combined
in
trans
to
a
low
expression
allele
c
.
1
-
251
G
,
c
.
68
-
23
T
,
and
c
.
315
-
48
C
,
showed
clinical
symptoms
.
The
absence
of
c
.
315
-
48
C
variant
was
sufficient
for
not
triggering
EPP
.
However
,
these
variants
showed
high
levels
of
cosegregation
and
GTC
haplotype
is
over-represented
in
EPP
patients
.
In
the
dominant
inheritance
form
of
EPP
,
c
.
3
15
-
48
C
variant
in
trans
to
the
mutated
allele
is
sufficient
to
trigger
the
disease
.
The
presence
of
GTC
haplotype
in
all
patients
with
dominant
EPP
could
be
due
to
the
high
level
of
cosegregation
of
c
.
315
-
48
C
with
c
.
1
-
251
G
and
c
.
68
-
23
T
variants
in
our
population
.
Diseases
Validation
Diseases presenting
"high levels"
symptom
22q11.2 deletion syndrome
adrenal incidentaloma
allergic bronchopulmonary aspergillosis
alpha-thalassemia
aromatase deficiency
cadasil
canavan disease
classical phenylketonuria
congenital adrenal hyperplasia
congenital toxoplasmosis
cutaneous mastocytosis
cystinuria
dentin dysplasia
dentinogenesis imperfecta
dracunculiasis
dystrophic epidermolysis bullosa
erythropoietic protoporphyria
gm1 gangliosidosis
hereditary cerebral hemorrhage with amyloidosis
holt-oram syndrome
homocystinuria without methylmalonic aciduria
kabuki syndrome
kallmann syndrome
liposarcoma
papillon-lefèvre syndrome
phenylketonuria
primary effusion lymphoma
primary hyperoxaluria type 1
scrub typhus
severe combined immunodeficiency
systemic capillary leak syndrome
triple a syndrome
von hippel-lindau disease
werner syndrome
wiskott-aldrich syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
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