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Tuberous sclerosis complex without tubers and subependymal nodules: a phenotype-genotype study.
[lymphangioleiomyomatosis]
Tuberous
sclerosis
complex
(
TSC
)
is
caused
by
a
mutation
in
the
TSC
1
or
TSC
2
genes
.
However
,
15
%
of
patients
have
no
mutation
identified
.
Tubers
and
subependymal
nodules
(
SENs
)
are
the
typical
brain
lesions
in
TSC
and
are
present
in
90
-
95
%
of
patients
.
The
objective
of
this
study
is
to
characterize
the
specific
genotype-phenotype
of
patients
without
these
lesions
.
We
analyzed
the
features
of
11
patients
without
typical
TSC
neuroanatomic
features
.
Ten
had
TSC
1
/
TSC
2
mutational
analysis
,
which
was
negative
.
Clinically
they
had
lesions
thought
to
be
of
neural
crest
(
NC
)
origin
,
such
as
hypomelanotic
macules
,
facial
angiofibromas
,
cardiac
rhabdomyomas
,
angiomyolipomas
,
and
lymphangioleiomyomatosis
.
We
hypothesize
that
patients
without
tubers
and
SENs
reflect
mosaicism
caused
by
a
mutation
in
TSC
1
or
TSC
2
in
a
NC
cell
during
embryonic
development
.
This
may
explain
the
negative
results
in
TSC
1
and
TSC
2
testing
in
DNA
from
peripheral
leukocytes
.