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Evidence for a founder mutation in the cathepsin C gene in three families with Papillon-Lefèvre syndrome.
[papillon-lefèvre syndrome]
Papillon-
Lefèvre
syndrome
(
PLS
;
OMIM
245000
)
is
a
rare
autosomal
recessive
disorder
.
Clinically
,
PLS
is
characterized
by
hyperkeratosis
involving
the
palms
,
soles
,
elbows
and
knees
which
is
followed
later
on
by
periodontitis
,
destruction
of
alveolar
bone
and
loss
of
primary
and
permanent
teeth
.
The
condition
is
caused
by
mutations
in
the
cathepsin
C
(
CTSC
)
gene
.
We
analyzed
the
DNA
of
members
from
3
consanguineous
families
for
mutations
in
the
CTSC
gene
by
direct
sequencing
analysis
.
We
then
performed
haplotype
analysis
.
We
identified
an
identical
recurrent
missense
mutation
,
R
272
P
,
in
all
3
families
.
Microsatellite
marker
analysis
around
the
CTSC
gene
revealed
the
same
haplotype
on
the
mutation
-carrying
allele
in
all
3
families
.
The
presence
of
this
common
mutation
in
families
from
2
different
geographical
areas
provides
evidence
for
a
founder
effect
for
CTSC
mutations
in
PLS
.
Diseases
Validation
Diseases presenting
"common mutation in families"
symptom
papillon-lefèvre syndrome
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