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NIPAL4/ichthyin is expressed in the granular layer of human epidermis and mutated in two Pakistani families with autosomal recessive ichthyosis.
[harlequin ichthyosis]
Autosomal
recessive
congenital
ichthyosis
(
ARCI
)
can
be
divided
into
3
types
including
lamellar
ichthyosis
(
OMIM
242304
)
,
nonbullous
congenital
ichthyosiform
erythroderma
(
OMIM
242100
)
and
harlequin
ichthyosis
(
OMIM
242500
)
.
The
last
type
is
uncommon
since
newborns
with
harlequin
ichthyosis
usually
die
shortly
after
birth
.
Several
genes
have
been
linked
to
ARCI
,
but
these
represent
only
60
%
of
the
known
genetic
causes
of
this
condition
.
After
having
performed
a
linkage
analysis
,
we
analyzed
the
DNA
of
2
consanguineous
Pakistani
families
with
ARCI
for
NIPAL
4
mutations
and
performed
in
situ
hybridization
(
ISH
)
for
NIPAL
4
mRNA
in
the
epidermis
.
The
haplotype
analysis
revealed
a
linkage
to
chromosome
5
,
and
we
identified
a
recurrent
missense
mutation
,
p
.
A
176
D
,
in
affected
individuals
from
both
families
.
We
also
determined
by
ISH
that
NIPAL
4
mRNA
is
highly
expressed
in
the
granular
cell
layer
of
the
epidermis
,
consistent
with
the
ARCI
phenotype
.
Our
results
expand
the
spectrum
of
the
clinical
manifestations
of
the
NIPAL
4
gene
and
further
extend
our
understanding
of
its
molecular
function
.
Diseases
Validation
Diseases presenting
"recurrent missense mutation"
symptom
harlequin ichthyosis
lamellar ichthyosis
papillon-lefèvre syndrome
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