Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Founder mutation in dystonin-e underlying autosomal recessive epidermolysis bullosa simplex in Kuwait.
[epidermolysis bullosa simplex]
Only
two
homozygous
nonsense
mutations
in
the
epidermal
isoform
of
the
dystonin
gene
,
DST
-e
,
have
been
reported
previously
in
autosomal
recessive
epidermolysis
bullosa
simplex
(
EBS
)
;
the
affected
pedigrees
were
Kuwaiti
and
Iranian
.
This
subtype
of
EBS
is
therefore
considered
to
be
a
rare
clinicopathological
entity
.
In
this
study
,
we
identified
4
seemingly
unrelated
Kuwaiti
families
in
which
a
total
of
7
individuals
had
predominantly
acral
trauma-induced
blistering
since
infancy
.
All
affected
individuals
were
homozygous
for
the
mutation
p
.
Gln
1124
*
in
DST
-e
,
the
same
mutation
that
was
identified
in
the
originally
reported
family
from
Kuwait
.
Haplotype
analysis
in
the
5
pedigrees
(
i
.
e
.
including
the
previous
case
)
revealed
a
shared
block
of
~
60
-
kb
of
genomic
DNA
across
the
site
of
the
mutation
,
consistent
with
a
founder
effect
.
Most
heterozygotes
had
no
clinical
abnormalities
although
one
subject
had
mild
transient
skin
fragility
during
childhood
,
an
observation
noted
in
the
previously
reported
Iranian
pedigree
,
suggesting
that
the
condition
also
may
be
semi-dominant
in
some
pedigrees
rather
than
purely
autosomal
recessive
.
Our
study
reveals
propagation
of
a
mutant
ancestral
allele
in
DST
-e
throughout
Kuwait
,
indicating
that
this
subtype
of
EBS
may
be
more
common
in
Kuwait
,
and
perhaps
other
Middle
-
Eastern
countries
,
than
is
currently
appreciated
.
This
article
is
protected
by
copyright
.
All
rights
reserved
.
Diseases
Validation
Diseases presenting
"homozygous nonsense mutations in the epidermal"
symptom
epidermolysis bullosa simplex
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom