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2p21 Deletions in hypotonia-cystinuria syndrome.
[cystinuria]
The
significant
role
of
the
SLC
3
A
1
gene
in
the
aetiology
of
cystinuria
is
meanwhile
well
established
and
more
than
130
point
mutations
have
been
reported
.
With
the
reports
on
genomic
deletions
including
at
least
both
SLC
3
A
1
and
the
neighboured
PREPL
gene
the
spectrum
of
cystinuria
mutations
and
of
clinical
symptoms
could
recently
be
enlarged
:
patients
homozygous
for
these
deletions
suffer
from
a
general
neonatal
hypotonia
and
growth
retardation
in
addition
to
cystinuria
.
The
hypotonia
in
these
hypotonia
-
cystinuria
(
HCS
)
patients
has
been
attributed
to
the
total
loss
of
the
PREPL
protein
.
Here
we
report
on
the
clinical
course
and
molecular
findings
in
a
HCS
patient
compound
heterozygote
for
a
new
deletion
in
2
p
21
and
a
previously
reported
deletion
,
both
identified
by
molecular
karyotyping
.
The
diagnostic
workup
in
this
patient
illustrates
the
need
for
a
careful
clinical
examination
in
context
with
powerful
molecular
genetic
tools
in
patients
with
unusual
phenotypes
.
The
identification
of
unique
genomic
alterations
and
their
interpretation
serves
as
a
prerequisite
for
the
individual
counselling
of
patients
and
their
families
.
In
diagnostic
strategies
to
identify
the
molecular
basis
of
both
cystinuria
and
hypotonia
2
p
21
deletions
should
be
considered
as
the
molecular
basis
of
the
phenotype
.
Diseases
Validation
Diseases presenting
"hypotonia 2p21 deletions should be considered as the molecular basis of the phenotype"
symptom
cystinuria
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