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Beta-galactosidase deficiencies and novel GLB1 mutations in three Chinese patients with Morquio B disease or GM1 gangliosidosis.
[gm1 gangliosidosis]
This
paper
aims
to
report
GLB
1
activities
and
mutation
analysis
of
three
patients
from
the
mainland
of
China
,
one
with
Morquio
B
disease
and
two
with
GM
1
gangliosidosis
.
G
LB
1
activity
and
GLB
1
gene
mutation
were
analyzed
in
the
three
patients
who
were
clinically
suspected
of
having
Morquio
B
disease
or
GM
1
gangliosidosis
.
Novel
mutations
were
analyzed
by
aligning
GLB
1
homologs
,
100
control
chromosomes
,
and
the
PolyPhen-
2
tool
.
T
he
enzymatic
activity
of
GLB
1
was
found
to
be
5
.
03
,
4
.
20
,
and
4
.
50
nmol
/
h
/
mg
in
the
three
patients
,
respectively
.
Patient
1
was
a
compound
heterozygote
for
p
.
[
Arg
148
Cys
]
and
p
.
[
Tyr
485
Cys
]
mutations
in
the
GLB
1
gene
.
Patient
2
was
a
compound
heterozygote
for
p
.
[
Tyr
270
Phe
]
and
p
.
[
Leu
337
P
ro
]
mutations
.
Patient
3
was
a
homozygote
for
p
.
[
Asp
448
Val
]
mutation
.
Three
mutations
(
p
.
[
Tyr
485
Cys
]
,
p
.
[
Tyr
270
Phe
]
and
p
.
[
Leu
337
P
ro
]
)
were
novel
variants
and
were
predicted
to
damage
GLB
1
function
.
The
enzymatic
activity
and
related
gene
analysis
of
β-galactosidase
should
be
performed
in
clinically
suspected
individuals
to
confirm
diagnosis
.
The
three
novel
mutations
,
p
.
[
Tyr
485
Cys
]
,
p
.
[
Tyr
270
Phe
]
,
and
p
.
[
Leu
337
P
ro
]
,
are
thought
to
be
disease-causing
mutations
.
Diseases
Validation
Diseases presenting
"clinically suspected individuals"
symptom
gm1 gangliosidosis
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