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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
.
