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Mutations, clinical findings and survival estimates in South American patients with X-linked adrenoleukodystrophy.
[x-linked adrenoleukodystrophy]
In
this
study
,
we
analyzed
the
ABCD
1
gene
in
X-
linked
adrenoleukodystrophy
(
X-
ALD
)
patients
and
relatives
from
38
unrelated
families
from
South
America
,
as
well
as
phenotypic
proportions
,
survival
estimates
,
and
the
potential
effect
of
geographical
origin
in
clinical
characteristics
.
X-
ALD
patients
from
Brazil
,
Argentina
and
Uruguay
were
invited
to
participate
in
molecular
studies
to
determine
their
genetic
status
,
characterize
the
mutations
and
improve
the
genetic
counseling
of
their
families
.
All
samples
were
screened
by
SSCP
analysis
of
PCR
fragments
,
followed
by
automated
DNA
sequencing
to
establish
the
specific
mutation
in
each
family
.
Age
at
onset
and
at
death
,
male
phenotypes
,
genetic
status
of
women
,
and
the
effect
of
family
and
of
latitude
of
origin
were
also
studied
.
We
identified
thirty-
six
different
mutations
(
twelve
novel
)
.
This
population
had
an
important
allelic
heterogeneity
,
as
only
p
.
Arg
518
Gln
was
repeatedly
found
(
three
families
)
.
Four
cases
carried
de
novo
mutations
.
Intra-familiar
phenotype
variability
was
observed
in
all
families
.
Out
of
87
affected
males
identified
,
65
%
had
the
cerebral
phenotype
(
CALD
)
.
The
mean
(
95
%
CI
)
ages
at
onset
and
at
death
of
the
CALD
were
10
.
9
(
9
.
1
-
12
.
7
)
and
24
.
7
(
19
.
8
-
29
.
6
)
years
.
No
association
was
found
between
phenotypic
manifestations
and
latitude
of
origin
.
One
index-case
was
a
girl
with
CALD
who
carried
an
ABCD
1
mutation
,
and
had
completely
skewed
X
inactivation
.
This
study
extends
the
spectrum
of
mutations
in
X-
ALD
,
confirms
the
high
rates
of
de
novo
mutations
and
the
absence
of
common
mutations
,
and
suggests
a
possible
high
frequency
of
cerebral
forms
in
our
population
.
Diseases
Validation
Diseases presenting
"and suggests a possible high frequency of cerebral forms in our population"
symptom
x-linked adrenoleukodystrophy
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