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p.N78S and p.R161Q germline mutations of the VHL gene are present in von Hippel-Lindau syndrome in two pedigrees.
[von hippel-lindau disease]
Von
Hippel-
Lindau
(
VHL
)
disease
is
an
autosomal
dominant
familial
cancer
syndrome
.
VHL
is
characterized
by
the
development
of
renal
cell
carcinoma
(
RCC
)
,
hemangioblastomas
of
the
central
nervous
system
or
retina
and
pheochromocytoma
(
PCC
)
.
RCC
and
PCC
are
known
to
be
caused
by
germline
mutations
of
six
and
ten
genes
,
respectively
.
In
the
present
study
,
30
individuals
from
two
unrelated
pedigrees
with
type
2
A
and
2
C
VHL
syndrome
were
investigated
.
The
patients
were
clinically
examined
and
treated
by
radical
nephrectomy
[
or
nephron‑sparing
surgery
(
NSS
)
]
and
cortical
-sparing
adrenalectomy
(
CSA
)
,
and
all
members
of
the
two
families
underwent
genetic
screening
.
Two
members
from
the
first
family
were
diagnosed
with
PCC
and
RCC
,
and
three
individuals
from
the
second
family
who
had
only
hypertension
were
diagnosed
with
PCC
.
Heterozygous
variants
of
the
VHL
gene
,
c
.
A
233
G
(
p
.
N
78
S
)
within
exon
1
and
c
.
G
482
A
(
p
.
R
161
Q
)
within
exon
3
,
were
verified
,
respectively
.
Surgery
was
performed
on
all
the
patients
,
with
the
exception
of
an
asymptomatic
5
-
year
-old
p
.
N
78
S
male
in
family
1
,
in
addition
to
genetic
testing
and
genetic
counseling
.
Further
patient
follow-up
was
warranted
with
regard
to
blood
pressure
and
health
,
although
normal
blood
pressure
and
no
local
recurrence
and
distant
metastasis
of
VHL
were
observed
previously
.
The
present
study
suggests
that
molecular
genetic
testing
may
aid
the
diagnosis
and
clinical
management
of
VHL
syndrome
.
Diseases
Validation
Diseases presenting
"blood pressure"
symptom
acute rheumatic fever
adrenal incidentaloma
alpha-thalassemia
cadasil
congenital adrenal hyperplasia
congenital diaphragmatic hernia
cushing syndrome
fabry disease
familial mediterranean fever
lymphangioleiomyomatosis
pendred syndrome
proteus syndrome
scrub typhus
systemic capillary leak syndrome
thoracic outlet syndrome
typhoid
von hippel-lindau disease
werner syndrome
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