Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
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
"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