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Compound heterozygous mutations including a de novo missense mutation in ABCA12 led to a case of harlequin ichthyosis with moderate clinical severity.
[harlequin ichthyosis]
Harlequin
ichthyosis
(
HI
)
is
one
of
the
most
devastating
genodermatoses
.
Recently
,
ABCA
12
mutations
were
identified
as
the
cause
of
HI
.
A
newborn
Japanese
male
demonstrated
the
typical
features
of
HI
.
The
patient
was
treated
with
oral
etretinate
and
his
general
condition
has
been
good
(
now
aged
1
.
5
years
)
.
This
patient
with
moderate
clinical
severity
was
compound
heterozygous
for
a
novel
de
novo
missense
mutation
1160
G
>
A
(
S
387
N
)
in
exon
10
and
a
maternal
deletion
mutation
4158
_
4160
delTAC
(
T
1387
del
)
in
exon
28
of
ABCA
12
.
T
1387
del
was
a
deletion
of
a
highly
conserved
threonine
residue
within
the
first
adenosine
5
'
triphosphate-binding
domain
and
is
thought
to
seriously
affect
the
function
of
the
ABCA
12
protein
.
Conversely
,
the
residue
387
is
located
outside
the
known
active
sites
of
ABCA
12
and
S
387
N
is
predicted
not
to
lead
to
a
serious
functional
deficiency
in
ABCA
12
.
Electron
microscopy
revealed
abnormal
lamellar
granules
in
the
granular
layer
cells
and
a
moderate
number
of
lipid
vacuoles
in
the
cornified
cells
.
Disturbed
glucosylceramide
transport
was
confirmed
in
the
cultured
keratinocytes
from
the
patient
.
No
de
novo
mutation
in
ABCA
12
has
yet
been
reported
either
in
HI
or
lamellar
ichthyosis
.
The
present
case
suggested
that
a
de
novo
ABCA
12
mutation
might
underlie
HI
.
Diseases
Validation
Diseases presenting
"a moderate number of lipid vacuoles in the cornified cells"
symptom
harlequin ichthyosis
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