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Clinical, biochemical and molecular characterization of cystinuria in a cohort of 12 patients.
[cystinuria]
Cystinuria
is
a
rare
autosomal
inherited
disorder
characterized
by
impaired
transport
of
cystine
and
dibasic
aminoacids
in
the
proximal
renal
tubule
.
Classically
,
cystinuria
is
classified
as
type
I
(
silent
heterozygotes
)
and
non-
type
I
(
heterozygotes
with
urinary
hyperexcretion
of
cystine
)
.
Molecularly
,
cystinuria
is
classified
as
type
A
(
mutations
on
SLC
3
A
1
gene
)
and
type
B
(
mutations
on
SLC
7
A
9
gene
)
.
The
goal
of
this
study
is
to
provide
a
comprehensive
clinical
,
biochemical
and
molecular
characterization
of
a
cohort
of
12
Portuguese
patients
affected
with
cystinuria
in
order
to
provide
insight
into
genotype-phenotype
correlations
.
We
describe
seven
type
I
and
five
non-
type
I
patients
.
Regarding
the
molecular
classification
,
seven
patients
were
type
A
and
five
were
type
B
.
In
SLC
3
A
1
gene
,
two
large
genomic
rearrangements
and
13
sequence
variants
,
including
four
new
variants
c
.
611
-
2
A
>
C
;
c
.
1136
+
44
G
>
A
;
c
.
1597
T
(
p
.
Y
533
N
)
;
c
.
*
70
A
>
G
,
were
found
.
One
large
genomic
rearrangement
was
found
in
SLC
7
A
9
gene
as
well
as
24
sequence
variants
including
3
novel
variants
:
c
.
216
C
>
T
(
p
.
C
7
2
C
)
,
c
.
1119
G
>
A
(
p
.
S
373
S
)
and
c
.
*
82
C
>
T
.
In
our
cohort
the
most
frequent
pathogenic
mutations
were
:
large
rearrangements
(
33
.
3
%
of
mutant
alleles
)
and
a
missense
mutation
c
.
1400
T
>
C
(
p
.
M
467
T
)
(
11
.
1
%
)
.
This
report
expands
the
spectrum
of
SLC
3
A
1
and
SLC
7
A
9
mutations
and
provides
guidance
in
the
clinical
implementation
of
molecular
assays
in
routine
genetic
counseling
of
Portuguese
patients
affected
with
cystinuria
.
