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Novel null-allele mutations and genotype-phenotype correlation in Argentinean patients with erythropoietic protoporphyria.
[erythropoietic protoporphyria]
Erythropoietic
protoporphyria
(
EPP
)
is
an
inherited
disorder
of
porphyrin
metabolism
in
which
decreased
activity
of
ferrochelatase
(
FECH
)
leads
to
accumulation
of
protoporphyrin
IX
(
PP
IX
)
in
red
blood
cells
,
plasma
,
liver
,
and
bile
,
and
increased
PP
IX
excretion
in
feces
.
Clinically
,
EPP
is
characterized
by
photosensitivity
that
begins
in
early
childhood
and
includes
burning
,
swelling
,
itching
,
and
painful
erythema
in
sun-exposed
areas
.
Chronic
liver
disease
is
an
important
complication
in
a
minority
of
EPP
patients
,
and
in
some
cases
liver
transplantation
has
been
performed
.
So
far
,
about
110
different
mutations
and
several
polymorphisms
have
been
characterized
in
the
human
FECH
gene
.
The
relationship
between
mutations
,
polymorphisms
,
and
porphyria
development
in
Argentinean
patients
was
investigated
.
This
is
the
first
genetic
study
carried
out
in
the
Argentinean
population
.
In
five
Argentinean
EPP
families
we
detected
three
novel
mutations
:
a
deletion
(
451
delT
)
producing
a
stop
codon
located
18
codons
downstream
from
the
mutation
and
two
splicing
mutations
:
IVS
1
-
2
A
>
G
leading
to
exon
2
skipping
and
IVS
4
-
2
A
>
G
,
which
causes
the
loss
of
the
first
48
bp
of
exon
5
.
We
also
found
two
previously
described
mutations
:
C
3
43
T
and
400
delA
,
which
produce
stop
codons
.
All
patients
had
an
FECH
activity
25
%
of
normal
and
also
had
the
polymorphisms
-
251
A
>
G
in
the
promoter
region
and
IVS
1
-
23
C
>
T
and
IVS
3
-
48
T
>
C
.
Our
findings
provide
supporting
evidence
for
the
concept
that
the
inheritance
of
the
low
expression
allele
IVS
3
-
48
C
in
trans
with
a
mutation
in
the
FECH
gene
is
necessary
for
EPP
to
become
clinically
manifest
.
Diseases
Validation
Diseases presenting
"low expression allele"
symptom
erythropoietic protoporphyria
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