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Familial skewed x chromosome inactivation in adrenoleukodystrophy manifesting heterozygotes from a Chinese pedigree.
[x-linked adrenoleukodystrophy]
X-
linked
adrenoleukodystrophy
(
X-
ALD
)
is
an
inherited
neurodegenerative
disorder
caused
by
mutations
in
the
ABCD
1
gene
.
Approximately
20
%
of
X-
ALD
female
carriers
may
develop
neurological
symptoms
.
Skewed
X
chromosome
inactivation
(
XCI
)
has
been
proposed
to
influence
the
manifestation
of
symptoms
in
X-
ALD
carriers
,
but
data
remain
conflicting
so
far
.
We
identified
a
three
generation
kindred
,
with
five
heterozygous
females
,
including
two
manifesting
carriers
.
XCI
pattern
and
the
ABCD
1
allele
expression
were
assessed
in
order
to
determine
if
symptoms
in
X-
ALD
carriers
could
be
related
to
skewed
XCI
and
whether
skewing
within
this
family
is
more
consistent
with
genetically
influenced
or
completely
random
XCI
.
We
found
a
high
frequency
of
skewing
in
this
family
.
Four
of
five
females
had
skewed
XCI
,
including
two
manifesting
carriers
favoring
the
mutant
allele
,
one
asymptomatic
carrier
favoring
the
normal
allele
,
and
one
female
who
was
not
an
X-
ALD
carrier
.
Known
causes
of
skewing
,
such
as
chromosomal
abnormalities
,
selection
against
deleterious
alleles
,
XIST
promoter
mutations
,
were
not
consistent
with
our
results
.
Our
data
support
that
skewed
XCI
in
favor
of
the
mutant
ABCD
1
allele
would
be
associated
with
the
manifestation
of
heterozygous
symptoms
.
Furthermore
,
XCI
skewing
in
this
family
is
genetically
influenced
.
However
,
the
underlying
mechanism
remains
to
be
substantiated
by
further
experiments
.
Diseases
Validation
Diseases presenting
"high frequency"
symptom
alpha-thalassemia
canavan disease
classical phenylketonuria
cohen syndrome
cowden syndrome
cystinuria
erdheim-chester disease
familial hypocalciuric hypercalcemia
familial mediterranean fever
gm1 gangliosidosis
heparin-induced thrombocytopenia
hirschsprung disease
homocystinuria without methylmalonic aciduria
inclusion body myositis
kabuki syndrome
kallmann syndrome
krabbe disease
lymphangioleiomyomatosis
neonatal adrenoleukodystrophy
papillon-lefèvre syndrome
pyruvate dehydrogenase deficiency
waldenström macroglobulinemia
x-linked adrenoleukodystrophy
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