Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
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
"early childhood"
symptom
22q11.2 deletion syndrome
achondroplasia
alpha-thalassemia
aniridia
aromatase deficiency
benign recurrent intrahepatic cholestasis
canavan disease
congenital adrenal hyperplasia
congenital diaphragmatic hernia
cystinuria
erythropoietic protoporphyria
fabry disease
gm1 gangliosidosis
junctional epidermolysis bullosa
kabuki syndrome
kindler syndrome
papillon-lefèvre syndrome
proteus syndrome
pyruvate dehydrogenase deficiency
triple a syndrome
werner syndrome
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom