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A novel somatic mutation of the 3beta-hydroxysteroid dehydrogenase gene in sporadic cutaneous verruciform xanthoma.
[child syndrome]
To
analyze
the
3
beta
-hydroxysteroid
dehydrogenase
(
NSDHL
)
gene
in
verruciform
xanthoma
(
VX
)
to
elucidate
its
potential
role
in
the
histogenesis
of
this
lesion
.
DNA
was
extracted
from
paraffin-embedded
tissue
,
followed
by
polymerase
chain
reaction
amplification
of
exons
4
and
6
of
the
NSDHL
gene
.
The
polymerase
chain
reaction
products
were
then
directly
sequenced
and
analyzed
for
the
presence
of
somatic
mutations
.
Nine
lesions
of
VX
from
8
patients
and
3
unrelated
normal
controls
were
evaluated
.
Two
of
9
VXs
(
22
%
)
demonstrated
a
novel
somatic
missense
mutation
in
exon
6
of
the
NSDHL
gene
.
The
mutation
was
not
present
in
the
remaining
7
lesions
of
VX
,
nonlesional
internal
controls
,
and
3
unrelated
normal
controls
.
No
mutation
of
exon
4
was
found
in
any
case
.
Mutations
of
exons
4
and
6
previously
identified
in
CHILD
syndrome
were
not
seen
in
our
cases
.
(
1
)
A
novel
missense
mutation
(
R
199
H
)
in
exon
6
of
the
NSDHL
gene
was
identified
in
a
small
subset
of
sporadic
VXs
.
(
2
)
Known
CHILD
syndrome
mutations
in
exons
4
and
6
of
the
NSDHL
gene
do
not
contribute
to
the
histogenesis
of
sporadic
VXs
.
Diseases
Validation
Diseases presenting
"mutation of exon 4"
symptom
child syndrome
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