Rare Diseases Symptoms Automatic Extraction
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A founder effect of c.1938delC in ITGB4 underlies junctional epidermolysis bullosa and its application for prenatal testing.
[junctional epidermolysis bullosa]
Junctional
epidermolysis
bullosa
associated
with
pyloric
atresia
(
JEB-
PA
)
is
one
of
the
most
severe
inherited
skin
diseases
,
characterized
by
generalized
blister
formation
and
occlusion
of
the
pylorus
at
birth
.
Most
JEB-
PA
patients
have
mutations
in
the
gene
encoding
β
4
integrin
(
ITGB
4
)
.
No
recurrent
mutations
in
ITGB
4
have
been
described
as
having
founder
effects
.
We
collected
three
JEB-
PA
families
with
c
.
1938
delC
in
ITGB
4
.
Haplotype
analysis
using
single
nucleotide
polymorphism
markers
throughout
ITGB
4
suggested
one
rare
haplotype
(
2
.
8
%
of
the
Han
Chinese
and
ethnic
Japanese
populations
)
in
all
alleles
with
c
.
1938
delC
.
The
parents
of
one
of
the
three
families
sought
prenatal
diagnosis
for
a
subsequent
pregnancy
.
We
succeeded
in
performing
prenatal
exclusion
of
JEB-
PA
using
the
foetal
genomic
DNA
.
Our
study
clearly
demonstrated
that
recurrent
c
.
1938
delC
in
ITGB
4
is
a
founder
mutation
in
JEB-
PA
patients
,
and
that
genotyping
of
the
mutation
can
be
utilized
for
prenatal
diagnosis
of
JEB-
PA
.
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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