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Three novel beta-galactosidase gene mutations in Han Chinese patients with GM1 gangliosidosis are correlated with disease severity.
[gm1 gangliosidosis]
GM
1
gangliosidosis
(
GM
1
)
is
an
autosomal
recessive
lysosomal
storage
disease
caused
by
deficiency
of
acid
beta
-galactosidase
(
GLB
1
;
EC
3
.
2
.
1
.
23
)
.
Here
,
we
identify
three
novel
mutations
in
the
GLB
1
gene
from
two
Han
Chinese
patients
with
GM
1
that
appear
correlated
with
clinical
phenotype
.
One
of
the
two
Han
Chinese
patients
with
GM
1
presented
with
the
juvenile
form
,
and
the
other
with
the
infantile
form
with
cardiac
involvement
.
Sequencing
of
the
entire
GLB
1
gene
revealed
three
novel
mutations
(
p
.
H
102
D
,
p
.
G
494
V
,
c
.
495
_
497
delTCT
)
,
which
were
absent
in
94
normal
controls
.
Transient
expression
of
cDNA
encoding
these
variants
was
performed
in
COS
-
1
cells
to
evaluate
β-galactosidase
activities
.
The
first
case
(
patient
1
)
with
the
juvenile
form
contained
two
missense
mutations
,
p
.
H
102
D
and
p
.
A
301
V
.
Patient
2
diagnosed
with
the
infantile
form
of
the
disease
with
cardiac
involvement
was
compound
heterozygous
for
p
.
G
494
V
and
c
.
495
_
497
delTCT
mutations
.
All
mutant
beta
-galactosidases
exhibited
significantly
reduced
activity
(
12
%
,
0
%
,
0
%
,
and
0
%
for
p
.
H
102
D
,
p
.
A
301
V
,
p
.
G
494
V
,
and
c
.
495
_
497
delTCT
)
,
compared
with
the
wild-
type
beta
-galactosidase
cDNA
clone
.
The
mutations
identified
in
patient
2
with
cardiomyopathy
were
localized
in
the
GLB
1
gene
region
common
to
both
lysosomal
beta
-galactosidase
and
elastin
binding
protein
(
EBP
)
,
and
caused
a
deletion
in
the
elastin
-binding
domain
of
EBP
.
A
ll
four
mutations
identified
in
Han
Chinese
patients
induce
significant
suppression
of
β-galactosidase
activity
,
correlating
with
severity
of
disease
and
presence
of
cardiomyopathy
.
Diseases
Validation
Diseases presenting
"and the other with the infantile form with cardiac involvement"
symptom
gm1 gangliosidosis
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