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A random Abstract
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A novel mutation in the von hippel-lindau tumor suppressor gene identified in a patient presenting with gestational diabetes mellitus.
[von hippel-lindau disease]
Von
Hippel-
Lindau
(
VHL
)
disease
is
an
autosomal
dominantly
inherited
,
multisystemic
tumor
syndrome
caused
by
mutations
in
the
VHL
gene
.
To
date
,
more
than
1
,
000
germline
and
somatic
mutations
of
the
VHL
gene
have
been
reported
.
We
present
a
novel
mutation
in
the
VHL
tumor
suppressor
gene
that
presented
with
gestational
diabetes
mellitus
.
A
30
-
year
-old
woman
presented
with
gestational
diabetes
mellitus
.
She
sequentially
showed
multiple
pancreatic
cysts
,
spinal
cord
hemangioblastoma
,
cerebellar
hemangioblastoma
,
and
clear
cell
type
renal
cell
carcinomas
.
Also
,
her
father
and
brother
had
brain
hemangioblastomas
.
Each
of
the
three
exons
of
the
VHL
gene
was
individually
amplified
by
polymerase
chain
reaction
and
direct
sequencing
was
performed
using
an
ABI
3730
DNA
analyzer
.
DNA
sequence
analysis
to
determine
the
presence
of
VHL
mutation
in
her
family
revealed
del
291
C
,
a
novel
frameshift
mutation
.
We
found
a
novel
mutation
in
the
VHL
tumor
suppressor
gene
that
presented
with
gestational
diabetes
mellitus
.