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Cathepsin C gene 5'-untranslated region mutation in papillon-lefèvre syndrome.
[papillon-lefèvre syndrome]
Papillon-
Lefèvre
syndrome
(
PLS
)
is
a
rare
autosomal
recessive
disorder
characterized
by
palmoplantar
keratoderma
together
with
a
severe
form
of
generalized
aggressive
periodontitis
and
associated
with
mutations
in
cathepsin
C
gene
(
CTSC
)
.
To
investigate
the
clinical
and
mutational
characteristics
of
6
PLS
patients
from
4
unrelated
Slovenian
families
.
CTSC
mutational
and
functional
analyses
were
performed
.
In
all
patients
,
a
novel
homozygous
substitution
,
c
.
-
55
C
>
A
,
in
the
CTSC
5
'
-
untranslated
region
(
UTR
)
was
detected
on
genomic
DNA
level
and
confirmed
by
mRNA
analysis
,
resulting
in
the
almost
complete
loss
of
CTSC
mRNA
expression
and
CTSC
activity
.
In
silico
analysis
revealed
the
potential
of
the
mutation
to
disrupt
putative
transcription
factor
binding
sites
(
TFBSs
)
for
AP
-
2
and
Sp
families
of
transcription
factors
.
I
dentification
of
a
novel
CTSC
5
'
-
UTR
mutation
together
with
a
severe
reduction
of
CTSC
mRNA
expression
and
virtually
nonexistent
CTSC
activity
was
suggestive
of
a
novel
mechanism
of
TFBS
dysfunction
associated
with
PLS
.
