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Trisomic rescue causing reduction to homozygosity for a novel ABCA12 mutation in harlequin ichthyosis.
[harlequin ichthyosis]
Harlequin
ichthyosis
(
HI
)
is
the
most
severe
and
often
lethal
form
of
congenital
ichthyosis
,
characterized
by
abnormal
desquamation
and
extreme
skin
thickening
and
hardening
over
the
entire
body
.
It
is
caused
by
recessive
loss
-of-function
mutations
in
the
ABCA
12
gene
located
on
chromosome
2
q
34
.
Here
,
we
report
a
sporadic
HI
patient
born
prematurely
due
to
severe
growth
delay
and
oligohydramnios
.
The
diagnosis
was
confirmed
by
ABCA
12
molecular
analysis
,
which
disclosed
the
novel
homozygous
mutation
p
.
R
287
X
.
Microsatellite
analysis
and
parental
segregation
study
showed
that
the
disease
resulted
from
complete
paternal
isodisomy
.
In
addition
,
chorionic
villus
karyotyping
revealed
a
non-mosaic
chromosome
2
trisomy
,
while
postnatal
peripheral
blood
karyotype
resulted
normal
female
.
Thus
,
these
findings
indicate
that
trisomic
rescue
is
one
step
of
the
mutational
cascade
leading
to
reduction
to
homozygosity
for
the
ABCA
12
mutation
in
the
embryo
.
Our
case
is
the
first
reported
HI
patient
in
whom
the
disease
is
due
to
uniparental
isodisomy
.
Diseases
Validation
Diseases presenting
"characterized by abnormal desquamation and extreme skin thickening and hardening over the entire body"
symptom
harlequin ichthyosis
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