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Large rearrangements detected by MLPA, point mutations, and survey of the frequency of mutations within the SLC3A1 and SLC7A9 genes in a cohort of 172 cystinuric Italian patients.
[cystinuria]
Cystinuria
is
a
rare
inherited
disorder
characterized
by
defective
renal
reabsorption
of
cystine
and
the
dibasic
amino
acids
.
SLC
3
A
1
and
SLC
7
A
9
have
been
identified
as
responsible
genes
.
The
large
majority
of
the
more
than
200
mutations
so
far
identified
in
the
two
genes
are
point
mutations
,
while
only
few
alleles
carrying
gross
genomic
alterations
have
been
reported
.
We
screened
39
cystinuric
patients
for
large
rearrangements
,
by
two
home-made
multiplex
ligation-dependent
probe
amplification
(
MLPA
)
assays
.
MLPA
analysis
led
to
the
identification
of
6
different
alleles
in
SLC
3
A
1
and
2
in
SLC
7
A
9
accounting
for
a
total
of
25
copy
number
changes
,
11
in
SLC
3
A
1
and
14
in
SLC
7
A
9
.
Three
large
rearrangements
in
SLC
3
A
1
,
deletion
of
exons
2
-
4
(
E
2
_
E
4
del
)
,
deletion
of
exons
5
-
6
(
E
5
_
E
6
del
)
and
duplication
of
exons
8
-
9
(
E
8
_
E
9
dup
)
are
novel
.
A
complete
SLC
7
A
9
gene
deletion
was
found
in
three
patients
.
In
addition
,
we
report
the
identification
of
three
novel
point
mutations
in
SLC
7
A
9
(
p
.
G
105
E
,
p
.
R
250
K
,
c
.
1416
_
1417
insAC
)
,
the
frequency
and
the
occurrence
of
cystinuria
mutations
in
a
cohort
of
172
Italian
patients
.
In
conclusion
,
we
developed
a
reliable
and
robust
MLPA
analytic
method
for
SLC
3
A
1
and
SLC
7
A
9
genes
that
represents
an
optimal
complement
to
DNA
sequence
analysis
in
patients
with
cystinuria
,
enabling
the
screening
for
deletions
and
duplications
.
Diseases
Validation
Diseases presenting
"duplication of exons"
symptom
cystinuria
holt-oram syndrome
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