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[Novel mutations of cathepsin C gene in two Chinese patients with Papillon-Lefèvre syndrome].
[papillon-lefèvre syndrome]
To
investigate
the
mutational
characteristics
of
cathepsin
C
(
CTSC
)
gene
in
two
Chinese
patients
with
Papillon-
Lefèvre
syndrome
(
PLS
)
,
and
provide
molecular
basis
for
research
of
the
pathogenesis
of
PLS
.
Peripheral
blood
samples
were
obtained
from
patients
and
their
parents
respectively
.
Genomic
DNA
were
extracted
after
consents
.
Polymerase
chain
reaction
,
direct
DNA
sequencing
and
restriction
enzyme
reaction
were
performed
to
screen
mutations
of
CTSC
gene
.
Compound
heterozygous
mutations
of
CTSC
gene
were
identified
in
the
two
patients
.
Patient
I
carried
the
G
139
R
and
S
260
P
mutations
,
patient
II
had
the
R
250
X
and
C
2
58
W
mutations
.
The
parents
were
heterozygous
carriers
without
the
clinical
feature
of
PLS
.
None
of
the
mutations
were
detected
in
normal
controls
.
Furthermore
,
the
S
260
P
and
C
2
58
W
changes
were
novel
mutations
of
CTSC
gene
,
which
had
not
been
reported
previously
.
Mutations
of
CTSC
gene
are
responsible
for
the
phenotype
of
Papillon-
Lefèvre
syndrome
in
two
Chinese
patients
.
The
results
extend
the
mutation
spectrum
of
CTSC
gene
and
also
provide
basis
for
gene
diagnosis
of
PLS
in
China
.
Diseases
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symptom
papillon-lefèvre syndrome
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