Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
A novel CASR mutation in a Tunisian FHH/NSHPT family associated with a mental retardation.
[familial hypocalciuric hypercalcemia]
The
calcium-sensing
receptor
(
CASR
)
,
a
plasma
membrane
G-
protein
coupled
receptor
,
is
expressed
in
parathyroid
gland
and
kidney
,
and
controls
systemic
calcium
homeostasis
.
Inactivating
CASR
mutations
have
previously
been
identified
in
patients
with
familial
hypocalciuric
hypercalcemia
(
FHH
)
and
neonatal
severe
hyperparathyroidism
(
NSHPT
)
.
The
aim
of
the
present
study
is
to
determine
the
underlying
molecular
defect
of
FHH
/
NSHPT
disease
in
a
consanguineous
Tunisian
family
.
Mutation
screening
was
carried
out
using
RFLP-PCR
and
direct
sequencing
.
We
found
that
the
proband
is
homozygous
for
a
novel
15
bp
deletion
in
the
exon
7
(
c
.
1952
_
1966
del
)
confirming
the
diagnosis
of
NSHPT
.
All
the
FHH
members
were
found
to
be
heterozygous
for
the
novel
detected
mutation
.
The
mutation
,
p
.
S
651
_
L
655
del
,
leads
to
the
deletion
of
5
codons
in
the
second
trans-membrane
domain
of
the
CASR
which
is
thought
to
be
involved
in
the
processes
of
ligand-induced
signaling
.
This
alteration
was
associated
with
the
evidence
of
mental
retardation
in
the
FHH
carriers
and
appears
to
be
a
novel
inactivating
mutation
in
the
CASR
gene
.
Our
findings
provide
additional
support
for
the
implication
of
CASR
gene
in
the
FHH
/
NSHPT
pathogenesis
.
Diseases
Validation
Diseases presenting
"appears to be a novel inactivating mutation in the casr gene"
symptom
familial hypocalciuric hypercalcemia
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom