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DNA-based prenatal diagnosis of harlequin ichthyosis and characterization of ABCA12 mutation consequences.
[harlequin ichthyosis]
Until
the
identification
of
ABCA
12
as
the
causative
gene
,
prenatal
diagnosis
(
PD
)
for
harlequin
ichthyosis
(
HI
)
had
been
performed
by
electron
microscopic
observation
of
fetal
skin
biopsy
samples
.
We
report
the
first
case
of
HI
DNA-based
PD
.
Direct
sequence
analysis
of
ABCA
12
revealed
that
the
deceased
proband
was
a
compound
heterozygote
for
two
novel
mutations
.
The
maternal
nonsense
mutation
p
.
Ser
1249
Term
likely
leads
to
nonsense-mediated
messenger
RNA
decay
.
The
paternal
mutation
c
.
7436
G
>
A
affects
the
last
codon
of
exon
50
and
was
expected
to
be
a
splice
site
mutation
.
For
their
third
pregnancy
,
the
parents
requested
PD
.
Direct
sequence
analysis
of
fetal
genomic
DNA
from
amniotic
fluid
cells
at
17
weeks
gestation
revealed
the
fetus
was
a
compound
heterozygote
for
both
mutations
.
The
parents
requested
the
pregnancy
to
be
terminated
.
Analysis
of
ABCA
12
transcripts
of
cultured
keratinocytes
from
the
abortus
showed
the
presence
of
six
abnormally
spliced
products
from
the
allele
carrying
the
splice
site
mutation
.
Four
of
them
lead
to
premature
termination
codons
whereas
the
two
others
produced
shortened
proteins
missing
21
and
31
amino
acids
from
the
second
ATP-binding
cassette
.
This
report
provides
evidence
for
residual
ABCA
12
expression
in
HI
,
and
demonstrates
the
efficiency
of
early
DNA-based
PD
of
HI
.
Diseases
Validation
Diseases presenting
"first case"
symptom
achondroplasia
adrenal incidentaloma
allergic bronchopulmonary aspergillosis
alpha-thalassemia
aniridia
aromatase deficiency
canavan disease
carcinoma of the gallbladder
child syndrome
cholangiocarcinoma
classical phenylketonuria
coats disease
cohen syndrome
congenital toxoplasmosis
cushing syndrome
cutaneous mastocytosis
dedifferentiated liposarcoma
dentin dysplasia
dracunculiasis
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
esophageal adenocarcinoma
esophageal carcinoma
fabry disease
familial mediterranean fever
focal myositis
gm1 gangliosidosis
harlequin ichthyosis
hodgkin lymphoma, classical
homocystinuria without methylmalonic aciduria
junctional epidermolysis bullosa
kabuki syndrome
krabbe disease
lamellar ichthyosis
legionellosis
liposarcoma
locked-in syndrome
malignant atrophic papulosis
monosomy 21
neonatal adrenoleukodystrophy
oculocutaneous albinism
omenn syndrome
papillon-lefèvre syndrome
pendred syndrome
pleomorphic liposarcoma
primary effusion lymphoma
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proteus syndrome
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thoracic outlet syndrome
von hippel-lindau disease
waldenström macroglobulinemia
well-differentiated liposarcoma
werner syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
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