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Novel mutations of cathepsin C gene in two Chinese patients with Papillon-Lefèvre syndrome.
[papillon-lefèvre syndrome]
Papillon-
Lefèvre
syndrome
(
PLS
)
is
an
inherited
human
disease
characterized
by
early
-onset
periodontitis
and
palmoplantar
hyperkeratosis
.
Mutations
of
the
lysosomal
protease
cathepsin
C
(
CTSC
)
gene
have
been
shown
to
be
the
genetic
cause
of
Papillon-
Lefèvre
syndrome
.
There
are
several
case
reports
in
China
,
while
there
has
been
no
study
on
the
genetic
analysis
of
PLS
.
We
studied
two
Chinese
patients
carrying
Papillon-
Lefèvre
syndrome
and
showing
premature
tooth
loss
and
palmoplantar
hyperkeratosis
.
Mutation
screening
and
sequence
analysis
of
the
CTSC
gene
revealed
a
compound
heterozygous
mutation
(
c
.
415
G
>
A
and
c
.
778
T
>
C
)
in
one
patient
,
and
two
novel
compound
heterozygous
mutations
(
c
.
851
G
>
A
and
c
.
112
delCCTG
)
in
the
other
patient
.
Our
novel
discovery
indicates
that
the
phenotypes
observed
in
these
two
patients
are
due
to
the
CTSC
gene
mutation
.
Diseases
Validation
Diseases presenting
"premature tooth loss"
symptom
papillon-lefèvre syndrome
This symptom has already been validated
