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Genetic characterization and protein stability analysis of a Chinese family with Von Hippel-Lindau disease.
[von hippel-lindau disease]
Von
Hippel-
Lindau
disease
(
VHL
)
,
a
heritable
autosomal
dominant
disease
characterized
by
neoplasia
in
multiple
organ
systems
,
has
rarely
been
reported
in
Asia
.
We
genetically
investigated
a
unique
Chinese
family
with
VHL
disease
and
performed
an
analysis
of
the
VHL
protein
stability
.
G
enomic
deoxyribonucleic
acid
(
DNA
)
extracted
from
peripheral
blood
was
amplified
by
polymerase
chain
reaction
(
PCR
)
to
three
exons
of
the
VHL
gene
in
9
members
of
the
Chinese
family
with
VHL
disease
.
PCR
products
were
directly
sequenced
.
We
estimated
the
effects
of
VHL
gene
mutation
on
the
stability
of
pVHL
,
which
is
indicated
by
the
free
energy
difference
between
the
wild-
type
and
the
mutant
protein
(
ΔΔG
)
.
The
Chinese
family
was
classified
as
VHL
type
1
.
Three
family
members
,
including
two
patients
and
a
carrier
,
had
a
T
to
G
heterozygotic
missense
mutation
at
nucleotide
515
of
the
VHL
gene
exon
1
.
This
missense
mutation
resulted
in
the
transition
from
leucine
to
arginine
in
amino
acid
101
of
the
VHL
protein
.
There
was
low
stability
of
the
VHL
protein
(
the
ΔΔG
was
12
.
71
kcal
/
mol
)
caused
by
this
missense
mutation
.
We
first
reported
a
family
with
this
VHL
gene
mutation
in
Asia
.
This
missense
mutation
is
predicted
to
significantly
reduce
the
stability
of
the
VHL
protein
and
contribute
to
the
development
of
the
renal
cell
carcinoma
(
RCC
)
phenotype
displayed
by
this
family
.
The
genetic
characterization
and
protein
stability
analysis
of
families
with
VHL
disease
are
important
for
early
diagnosis
and
prevention
of
the
disease
being
passed
on
to
their
offspring
.
