Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
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
"frameshift deletions in 11 of the 12 screened individuals with hi"
symptom
harlequin ichthyosis
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom