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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
"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