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
.