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Phenotypic variation and allelic heterogeneity in young patients with Papillon-Lefèvre syndrome.
[papillon-lefèvre syndrome]
Papillon-
Lefèvre
syndrome
is
an
autosomal
recessive
disorder
characterized
by
palmoplantar
hyperkeratosis
and
aggressive
periodontitis
.
The
aim
of
the
study
was
to
identify
underlying
cathepsin
C
mutations
in
39
subjects
with
Papillon-
Lefèvre
syndrome
and
to
explore
any
phenotypic
associations
.
Genotyping
and
mutation
analyses
were
performed
using
standard
molecular
techniques
,
and
dermatological
and
oral
characteristics
were
assessed
with
a
semiquantitative
clinical
score
.
Three
genotypes
were
present
at
microsatellite
marker
D
11
S
1780
and
two
underlying
mutations
were
identified
.
The
most
common
genotype
(
183
/
183
)
was
associated
with
an
815
G
-
-
>
C
mutation
in
exon
6
resulting
in
an
arginine
to
proline
change
at
amino
acid
272
(
R
272
P
)
.
Patients
with
the
173
/
173
genotype
revealed
an
exon
7
G
300
D
mutation
resulting
in
a
glycine
to
aspartic
acid
change
at
amino
acid
300
.
The
mutation
in
a
family
with
189
/
189
genotype
remained
unknown
.
A
significant
difference
in
hyperkeratosis
of
the
feet
was
found
between
the
patients
with
mutations
G
300
D
and
R
272
P
(
p
<
0
.
05
)
,
but
not
regarding
hands
or
periodontal
condition
.
Young
girls
displayed
significantly
less
palmoplantar
hyperkeratosis
(
p
<
0
.
05
)
than
young
boys
.
In
conclusion
,
considerable
phenotypic
heterogeneity
was
observed
within
the
two
cardinal
mutations
and
in
the
189
/
189
genotype
.
Diseases
Validation
Diseases presenting
"palmoplantar hyperkeratosis"
symptom
cowden syndrome
epidermolysis bullosa simplex
kindler syndrome
papillon-lefèvre syndrome
This symptom has already been validated