Rare Diseases Symptoms Automatic Extraction
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A random Abstract
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A new pathogenic keratin 5 mutation in a Hindoestan family with localized epidermolysis bullosa simplex.
[epidermolysis bullosa simplex]
Epidermolysis
bullosa
simplex
is
an
autosomal
dominant
inherited
skin
blistering
disorder
caused
by
mutations
in
the
genes
KRT
5
or
KRT
14
coding
for
the
basal
epidermal
keratins
5
and
14
,
respectively
.
We
describe
a
novel
heterozygous
pathogenic
missense
mutation
(
KRT
5
:
c
.
596
A
>
T
,
p
.
Lys
199
M
et
)
in
a
Hindoestan
male
with
early
onset
localized
epidermolysis
bullosa
simplex
that
segregated
with
the
phenotype
in
the
family
.
We
also
found
a
new
heterozygous
amino
acid
substitution
polymorphism
in
the
variable
keratin
14
N-
terminal
head
domain
(
KRT
14
:
c
.
88
C
>
T
,
p
.
Arg
30
C
ys
)
,
that
did
not
segregate
with
the
phenotype
.