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Phenotype determining alleles in GM1 gangliosidosis patients bearing novel GLB1 mutations.
[gm1 gangliosidosis]
GM
1
gangliosidosis
manifests
with
progressive
psychomotor
deterioration
and
dysostosis
of
infantile
,
juvenile
,
or
adult
onset
,
caused
by
alterations
in
the
structural
gene
coding
for
lysosomal
acid
beta
-galactosidase
(
GLB
1
)
.
In
addition
,
allelic
variants
of
this
gene
can
result
in
Morquio
B
disease
(
MBD
)
,
a
phenotype
with
dysostosis
multiplex
and
entire
lack
of
neurologic
involvement
.
More
than
100
sequence
alterations
in
the
GLB
1
gene
have
been
identified
so
far
,
but
only
few
could
be
proven
to
be
predictive
for
one
of
the
GM
1
gangliosidosis
subtypes
or
MBD
.
We
performed
genotype
analyses
in
16
GM
1
gangliosidosis
patients
of
all
phenotypes
and
detected
28
different
genetic
lesions
.
Among
these
,
p
.
I
55
FfsX
16
,
p
.
W
65
X
,
p
.
F
10
7
L
,
p
.
H
112
P
,
p
.
C
127
Y
,
p
.
W
161
X
,
p
.
I
181
K
,
p
.
C
2
30
R
,
p
.
W
273
X
,
p
.
R
299
VfsX
5
,
p
.
A
301
V
,
p
.
F
3
57
L
,
p
.
K
359
KfsX
23
,
p
.
L
389
P
,
p
.
D
448
V
,
p
.
D
448
GfsX
8
,
and
the
intronic
mutation
IVS
6
-
8
A
>
G
have
not
been
published
so
far
.
Due
to
their
occurrence
in
homozygous
patients
,
four
mutations
could
be
correlated
to
a
distinct
GM
1
gangliosidosis
phenotype
.
Furthermore
,
the
missense
mutations
from
heteroallelic
patients
and
three
artificial
nonsense
mutations
were
characterized
by
overexpression
in
COS
-
1
cells
,
and
the
subcellular
localization
of
the
mutant
proteins
in
fibroblasts
was
assessed
.
The
phenotype
specificity
of
10
alleles
can
be
proposed
on
the
basis
of
our
results
and
previous
data
.
Diseases
Validation
Diseases presenting
"alterations in the structural gene coding for lysosomal acid beta-galactosidase"
symptom
gm1 gangliosidosis
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