Rare Diseases Symptoms Automatic Extraction
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ABCA12 is the major harlequin ichthyosis gene.
[harlequin ichthyosis]
Harlequin
ichthyosis
(
HI
)
is
the
most
severe
form
of
autosomal-recessive
,
congenital
ichthyosis
.
Affected
infants
have
markedly
impaired
barrier
function
and
are
more
susceptible
to
infection
.
Abnormalities
in
the
localization
of
epidermal
lipids
as
well
as
abnormal
lamellar
granule
formation
are
features
of
HI
skin
.
Previously
,
we
and
others
have
shown
that
mutations
in
the
ABCA
12
gene
encoding
an
adenosine
triphosphate-binding
cassette
(
ABC
)
transporter
underlie
the
skin
disease
HI
.
In
this
study
,
we
have
sequenced
the
ABCA
12
gene
in
an
additional
14
patients
and
show
that
all
contain
mutations
,
with
the
majority
being
either
nonsense
substitution
or
frameshift
mutations
.
Eleven
HI
patients
had
bi
-allelic
ABCA
12
mutations
,
whereas
in
the
remaining
three
HI
patients
in
this
study
,
ABCA
12
mutations
were
detected
on
only
one
allele
by
sequencing
.
In
addition
,
the
one
patient
from
the
previous
study
where
no
sequence
mutations
were
detected
was
screened
for
heterozygous
deletions
.
A
combination
of
oligonucleotide
arrays
,
multiplex
PCR
analysis
and
single
-nucleotide
polymorphism
genotyping
revealed
a
heterozygous
intragenic
deletion
in
exon
8
.
These
mutation
data
establish
ABCA
12
as
the
major
HI
gene
.
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