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DNA-based prenatal diagnosis of plectin-deficient epidermolysis bullosa simplex associated with pyloric atresia.
[epidermolysis bullosa simplex]
Mutations
in
the
plectin
gene
(
PLEC
)
generally
lead
to
epidermolysis
bullosa
simplex
(
EBS
)
associated
with
muscular
dystrophy
.
It
has
been
recently
demonstrated
that
PLEC
mutations
can
also
cause
a
different
clinical
subtype
,
EBS
associated
with
pyloric
atresia
(
EBS-
PA
)
,
which
shows
early
lethality
.
Prenatal
diagnosis
(
PND
)
of
EBS-
PA
using
mutation
screening
of
PLEC
has
not
been
described
.
This
study
aimed
to
perform
DNA-based
PND
for
an
EBS-
PA
family
.
T
he
EBS-
PA
proband
was
compound-heterozygous
for
a
paternal
c
.
1350
G
>
A
splice-site
mutation
and
a
maternal
p
.
Q
305
X
nonsense
mutation
.
Genomic
DNA
was
obtained
from
amniocytes
taken
from
an
at
-risk
fetus
of
the
proband
's
family
.
Direct
sequencing
and
restriction
enzyme
digestion
of
polymerase
chain
reaction
products
from
the
genomic
DNA
were
performed
.
Mutational
analysis
showed
that
the
fetus
harbored
both
pathogenic
mutations
,
suggesting
that
the
fetus
was
a
compound-heterozygote
and
therefore
affected
with
EBS-
PA
.
The
skin
sample
obtained
by
autopsy
from
the
abortus
confirmed
the
absence
of
plectin
expression
at
the
dermal-epidermal
junction
.
T
his
is
the
first
successful
DNA-based
PND
for
an
EBA-
PA
family
.
Diseases
Validation
Diseases presenting
"prenatal diagnosis"
symptom
22q11.2 deletion syndrome
achondroplasia
adrenomyeloneuropathy
alexander disease
alpha-thalassemia
aromatase deficiency
benign recurrent intrahepatic cholestasis
cadasil
canavan disease
classical phenylketonuria
cohen syndrome
congenital adrenal hyperplasia
congenital diaphragmatic hernia
congenital toxoplasmosis
cystinuria
dentinogenesis imperfecta
epidermolysis bullosa simplex
harlequin ichthyosis
holt-oram syndrome
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
junctional epidermolysis bullosa
kindler syndrome
krabbe disease
lamellar ichthyosis
megacystis-microcolon-intestinal hypoperistalsis syndrome
monosomy 21
neonatal adrenoleukodystrophy
oculocutaneous albinism
omenn syndrome
phenylketonuria
primary hyperoxaluria type 1
pyruvate dehydrogenase deficiency
severe combined immunodeficiency
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
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