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Array CGH improves detection of mutations in the GALC gene associated with Krabbe disease.
[krabbe disease]
Krabbe
disease
is
an
autosomal
recessive
lysosomal
storage
disorder
caused
by
mutations
in
the
GALC
gene
.
The
most
common
mutation
in
the
Caucasian
population
is
a
30
-
kb
deletion
of
exons
11
through
17
.
There
are
few
other
reports
of
intragenic
GALC
deletions
or
duplications
,
due
in
part
to
difficulties
detecting
them
.
We
used
gene
-targeted
array
comparative
genomic
hybridization
(
CGH
)
to
analyze
the
GALC
gene
in
individuals
with
Krabbe
disease
in
whom
sequence
analysis
with
30
-
kb
deletion
analysis
identified
only
one
mutation
.
In
our
sample
of
33
cases
,
traditional
approaches
failed
to
identify
two
pathogenic
mutations
in
five
(
15
.
2
%
)
individuals
with
confirmed
Krabbe
disease
.
The
addition
of
array
CGH
deletion
/
duplication
analysis
to
the
genetic
testing
strategy
led
to
the
identification
of
a
second
pathogenic
mutation
in
three
(
9
.
1
%
)
of
these
five
individuals
.
In
all
three
cases
,
the
deletion
or
duplication
identified
through
array
CGH
was
a
novel
GALC
mutation
,
including
the
only
reported
duplication
in
the
GALC
gene
,
which
would
have
been
missed
by
traditional
testing
methodologies
.
We
report
these
three
cases
in
detail
.
The
second
mutation
remains
unknown
in
the
remaining
two
individuals
(
6
.
1
%
)
,
despite
our
full
battery
of
testing
.
Analysis
of
the
GALC
gene
using
array
CGH
deletion
/
duplication
testing
increased
the
two
-
mutation
detection
rate
from
84
.
8
%
to
93
.
9
%
in
affected
individuals
.
Better
mutation
detection
rates
are
important
for
improving
molecular
diagnosis
of
Krabbe
disease
,
as
well
as
for
providing
prenatal
and
carrier
testing
in
family
members
.
Diseases
Validation
Diseases presenting
"few other reports"
symptom
krabbe disease
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