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Detection of an intragenic deletion expands the spectrum of CTSC mutations in Papillon-Lefèvre syndrome.
[papillon-lefèvre syndrome]
The
Papillon-
Lefèvre
syndrome
(
PLS
)
is
an
autosomal
recessive
disorder
.
The
gene
responsible
for
the
disease
,
cathepsin
C
(
CTSC
)
,
is
localized
in
11
q
14
.
1
-
q
14
.
21
.
We
performed
mutational
and
functional
analyses
of
CTSC
in
two
patients
affected
by
this
condition
.
Three
previously
unreported
CTSC
mutations
were
identified
.
The
first
patient
had
a
compound
heterozygous
status
with
a
p
.
G
386
R
missense
mutation
and
an
intragenic
deletion
spanning
exons
3
-
7
.
Second
patient
carried
a
homozygous
splice
site
mutation
,
p
.
A
253
SfsX
30
.
CTSC
activity
was
undetectable
in
both
patients
,
thus
demonstrating
the
pathological
effect
of
these
mutations
.
We
describe
early
evidence
of
an
original
intragenic
deletion
reported
in
PLS
.
Since
this
mutational
mechanism
could
not
be
detected
by
direct
sequencing
,
intragenic
deletion
has
to
be
specifically
investigated
using
gene
dosage
analysis
techniques
such
as
quantitative
multiplex
fluorescent
polymerase
chain
reaction
.
We
consider
that
this
technique
should
be
performed
in
patients
with
apparently
homozygous
CTSC
mutations
when
one
parent
does
not
carry
the
expected
mutation
or
is
not
available
for
analysis
.