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
"characterized by generalized blister formation and occlusion of the pylorus at birth"
symptom
junctional epidermolysis bullosa
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