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Telomere shortening is associated with genetic anticipation in Chinese Von Hippel-Lindau disease families.
[von hippel-lindau disease]
Von
Hippel-
Lindau
(
VHL
)
disease
is
a
rare
autosomal
dominant
cancer
syndrome
.
A
phenomenon
known
as
genetic
anticipation
has
been
documented
in
some
hereditary
cancer
syndromes
,
where
it
was
proved
to
relate
to
telomere
shortening
.
Because
studies
of
this
phenomenon
in
VHL
disease
have
been
relatively
scarce
,
we
investigated
anticipation
in
18
Chinese
VHL
disease
families
.
We
recruited
34
parent-child
patient
pairs
(
57
patients
)
from
18
families
with
VHL
disease
.
Onset
age
was
defined
as
the
age
when
any
symptom
or
sign
of
VHL
disease
first
appeared
.
Anticipation
of
onset
age
was
analyzed
by
paired
t
test
and
the
other
two
special
tests
(
HV
and
RY
2
)
.
Relative
telomere
length
of
peripheral
leukocytes
was
measured
in
29
patients
and
325
healthy
controls
.
Onset
age
was
younger
in
child
than
in
parent
in
31
of
the
34
parent-child
pairs
.
Patients
in
the
first
generation
had
older
onset
age
with
longer
age-adjusted
relative
telomere
length
,
and
those
in
the
next
generation
had
younger
onset
age
with
shorter
age-adjusted
relative
telomere
length
(
P
<
0
.
001
)
in
the
10
parent-child
pairs
from
eight
families
with
VHL
disease
.
In
addition
,
relative
telomere
length
was
shorter
in
the
29
patients
with
VHL
disease
than
in
the
normal
controls
(
P
=
0
.
003
)
.
The
anticipation
may
relate
to
the
shortening
of
telomere
length
in
patients
with
VHL
in
successive
generations
.
These
findings
indicate
that
anticipation
is
present
in
families
with
VHL
disease
and
may
be
helpful
for
genetic
counseling
for
families
with
VHL
disease
families
and
for
further
understanding
the
pathogenesis
of
VHL
disease
.
Diseases
Validation
Diseases presenting
"first generation"
symptom
22q11.2 deletion syndrome
acute rheumatic fever
von hippel-lindau disease
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