Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
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
"which would have been missed by traditional testing methodologies"
symptom
krabbe disease
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom