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Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis.
[harlequin ichthyosis]
Harlequin
ichthyosis
(
HI
)
is
the
most
severe
and
frequently
lethal
form
of
recessive
congenital
ichthyosis
.
Although
defects
in
lipid
transport
,
protein
phosphatase
activity
,
and
differentiation
have
been
described
,
the
genetic
basis
underlying
the
clinical
and
cellular
phenotypes
of
HI
has
yet
to
be
determined
.
By
use
of
single
-nucleotide-polymorphism
chip
technology
and
homozygosity
mapping
,
a
common
region
of
homozygosity
was
observed
in
five
patients
with
HI
in
the
chromosomal
region
2
q
35
.
Sequencing
of
the
ABCA
12
gene
,
which
maps
within
the
minimal
region
defined
by
homozygosity
mapping
,
revealed
disease-associated
mutations
,
including
large
intragenic
deletions
and
frameshift
deletions
in
11
of
the
12
screened
individuals
with
HI
.
Since
HI
epidermis
displays
abnormal
lamellar
granule
formation
,
ABCA
12
may
play
a
critical
role
in
the
formation
of
lamellar
granules
and
the
discharge
of
lipids
into
the
intercellular
spaces
,
which
would
explain
the
epidermal
barrier
defect
seen
in
this
disorder
.
This
finding
paves
the
way
for
early
prenatal
diagnosis
.
In
addition
,
functional
studies
of
ABCA
12
will
lead
to
a
better
understanding
of
epidermal
differentiation
and
barrier
formation
.
Diseases
Validation
Diseases presenting
"early prenatal diagnosis"
symptom
harlequin ichthyosis
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