Rare Diseases Symptoms Automatic Extraction
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A random Abstract
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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
"ichthyosis"
symptom
child syndrome
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
harlequin ichthyosis
hirschsprung disease
junctional epidermolysis bullosa
kallmann syndrome
lamellar ichthyosis
This symptom has already been validated