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New mutation in the CASR gene in a family with familial hypocalciuric hypercalcemia (FHH) and neonatal severe hyperparathyroidism (NSHPT).
[familial hypocalciuric hypercalcemia]
A
loss
of
calcium-sensing
receptor
(
CASR
)
function
due
to
inactivating
mutations
can
cause
familial
hypocalciuric
hypercalcemia
(
FHH
)
or
neonatal
severe
hyperparathyroidism
(
NSHPT
)
.
NSHPT
represents
the
most
severe
expression
of
FHH
and
courses
as
a
life-threatening
condition
.
The
aim
of
this
study
was
to
identify
and
characterize
a
CASR
mutation
in
a
female
infant
brought
to
the
health
service
due
to
dehydration
,
apathy
,
lack
of
breast
feeding
and
severe
hypercalcemia
.
Molecular
analysis
was
performed
on
genomic
DNA
of
the
index
case
and
her
parents
.
A
novel
homozygous
mutation
(
p
.
E
519
X
)
in
CASR
was
identified
in
the
proband
;
both
mother
and
father
had
the
same
mutation
in
heterozygous
state
,
confirming
their
FHH
condition
.
The
mutation
results
in
a
truncated
and
inactive
protein
due
to
the
lack
of
transmembrane
and
intracellular
domains
.
The
identification
of
this
novel
CASR
gene
mutation
established
the
basis
of
hypercalcemia
in
this
family
and
allowed
a
genetic
counseling
.
Diseases
Validation
Diseases presenting
"dehydration"
symptom
aniridia
esophageal carcinoma
familial hypocalciuric hypercalcemia
harlequin ichthyosis
homocystinuria without methylmalonic aciduria
junctional epidermolysis bullosa
lamellar ichthyosis
systemic capillary leak syndrome
This symptom has already been validated