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Identification of novel mutations in the ABCA12 gene, c.1857delA and c.5653-5655delTAT, causing harlequin ichthyosis.
[lamellar ichthyosis]
Harlequin
ichthyosis
(
HI
)
is
a
severe
autosomal
recessive
developmental
disorder
of
the
skin
that
is
frequently
but
not
always
fatal
in
the
first
few
days
of
life
.
In
HI
,
mutations
in
both
ABCA
12
gene
alleles
must
have
a
severe
impact
on
protein
function
and
most
mutations
are
truncating
.
The
presence
of
at
least
one
nontruncating
mutation
(
predicting
a
residual
protein
function
)
usually
causes
a
less
severe
congenital
ichthyosis
(
lamellar
ichthyosis
or
congenital
ichthyosiform
erythroderma
)
.
Here
we
report
on
a
girl
with
severe
HI
diagnosed
by
prenatal
ultrasound
at
33
5
/
7
week
gestation
.
Ultrasound
findings
included
ectropion
,
eclabium
,
deformed
nose
,
hands
and
feet
,
joint
contractures
,
hyperechogenic
amniotic
fluid
and
polyhydramnion
.
After
birth
,
palliative
treatment
was
provided
and
she
died
on
her
first
day
of
life
.
Sequence
analysis
of
the
ABCA
12
gene
identified
two
novel
mutations
,
c
.
1857
delA
(
predicting
p
.
Lys
619
)
in
exon
15
and
c
.
5653
-
5655
delTAT
(
predicting
p
.
1885
delTyr
)
in
exon
37
,
each
in
heterozygous
state
.
The
c
.
5653
-
5655
delTAT
mutation
is
not
truncating
,
but
the
deleted
tyrosine
at
position
1885
is
perfectly
conserved
among
vertebrates
and
molecular
studies
evaluated
the
mutation
as
probably
disease
causing
and
damaging
.
Diseases
Validation
Diseases presenting
"hands and feet"
symptom
harlequin ichthyosis
lamellar ichthyosis
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