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The Genetic Diversity of Cystinuria in a UK Population of Patients.
[cystinuria]
To
examine
the
genetic
mutations
in
the
first
UK
cohort
of
patients
with
cystinuria
with
preliminary
genotype
/
phenotype
correlation
PATIENTS
AND
METHODS
:
DNA
sequencing
and
MLPA
were
used
to
identify
the
mutations
in
74
patients
in
a
specialist
cystinuria
clinic
in
the
UK
.
Patients
with
type
A
cystinuria
were
classified
into
two
groups
:
group
M
patients
had
at
least
one
missense
mutation
.
Group
N
patients
had
two
alleles
of
all
other
types
of
mutations
including
frameshift
,
splice
site
,
nonsense
,
deletions
and
duplications
.
The
levels
of
urinary
dibasic
amino
acids
,
age
of
presentation
of
disease
,
number
of
stone
episodes
and
interventions
were
compared
between
patients
in
the
two
groups
using
Mann-
Whitney
U
test
.
41
patients
had
type
A
cystinuria
including
one
patient
with
a
variant
of
unknown
significance
.
23
patients
had
type
B
cystinuria
,
including
6
patients
with
variants
of
unknown
significance
.
One
patient
had
3
sequence
variants
in
SLC
7
A
9
however
2
are
of
unknown
significance
.
Three
patients
had
type
AB
cystinuria
.
Three
had
a
single
mutation
in
SLC
7
A
9
.
No
identified
mutations
were
found
in
three
patients
in
either
gene
.
There
were
a
total
of
88
mutations
in
SLC
3
A
1
and
55
mutations
in
SLC
7
A
9
.
There
were
23
pathogenic
mutations
identified
in
our
UK
cohort
of
patients
not
previously
reported
in
literature
.
In
patients
with
type
A
cystinuria
,
the
presence
of
a
missense
mutation
correlated
to
lower
levels
of
urinary
lysine
(
611
.
9
mM
/
MC
SE
22
.
65
vs
752
.
3
mM
/
MC
SE
46
.
39
,
p
=
0
.
0171
)
,
arginine
(
194
.
8
mM
/
MC
SE
24
.
83
vs
397
.
7
mM
/
MC
SE
15
.
32
,
p
=
0
.
0008
)
and
ornithine
(
109
.
2
mM
/
MC
SE
7
.
403
vs
146
.
6
mM
/
MC
SE
12
.
7
,
p
=
0
.
0211
)
.
There
was
no
difference
in
the
levels
of
urinary
cystine
(
182
.
1
mM
/
MC
SE
8
.
89
vs
207
.
2
mM
/
MC
SE
19
.
23
,
p
=
0
.
2343
)
.
We
have
characterised
the
genetic
diversity
of
cystinuria
in
a
UK
population
including
23
pathogenic
mutations
not
previously
described
in
literature
.
Patients
with
at
least
one
missense
mutation
in
SLC
3
A
1
had
significantly
lower
levels
of
lysine
,
arginine
,
ornithine
but
not
cystine
than
patients
with
all
other
combinations
of
mutations
.
Diseases
Validation
Diseases presenting
"55 mutations in slc7a9"
symptom
cystinuria
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