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Manifestation of diffuse yellowish keratoderma on the palms and soles in autosomal recessive congenital ichthyosis patients may be indicative of mutations in NIPAL4.
[lamellar ichthyosis]
Ichthyosis
is
a
heterogeneous
disorder
characterized
by
abnormal
skin
scaling
over
the
whole
body
.
Autosomal
recessive
congenital
ichthyosis
(
ARCI
)
comprises
various
forms
,
the
most
important
of
which
are
lamellar
ichthyosis
(
LI
)
and
congenital
ichthyosiform
erythroderma
(
CIE
)
.
Seven
genes
have
been
identified
to
be
causative
of
ARCI
,
and
these
account
for
disease
in
60
-
80
%
of
the
patients
.
There
is
notable
phenotypic
overlap
between
the
major
forms
of
ARCI
,
and
a
strong
genotype-phenotype
correlation
has
not
been
found
.
Here
,
we
initially
aimed
to
identify
the
causative
gene
in
a
large
Iranian
ARCI
pedigree
,
and
subsequently
performed
genetic
analysis
on
four
other
affected
pedigrees
.
A
genotype-phenotype
correlation
was
sought
.
Whole
genome
homozygosity
mapping
using
high
-density
single
nucleotide
polymorphism
chips
was
performed
on
the
large
pedigree
.
Linkage
to
chromosome
5
and
a
mutation
in
NIPAL
4
causing
p
.
G
297
R
were
identified
.
The
same
mutation
was
also
identified
in
two
of
the
remaining
four
Iranian
pedigrees
.
Two
of
the
NIPAL
4
mutation
bearing
pedigrees
were
classified
as
CIE
and
one
as
LI
.
Notably
,
all
NIPAL
4
mutation
-bearing
patients
manifested
diffuse
yellowish
keratoderma
on
the
palms
and
soles
.
We
provide
evidence
suggesting
presentation
of
this
diffuse
yellowish
keratoderma
may
be
indicative
of
mutations
in
NIPAL
4
,
providing
an
easily
assessable
genotype-phenotype
correlation
.
Diseases
Validation
Diseases presenting
"subsequently performed genetic analysis"
symptom
lamellar ichthyosis
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