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Novel cathepsin C mutation in a Brazilian family with Papillon-Lefèvre syndrome: case report and mutation update.
[papillon-lefèvre syndrome]
Papilion-
Lefèvre
syndrome
(
PLS
)
is
a
rare
autosomal
recessive
disorder
that
involves
palmoplantar
keratosis
(
PK
)
and
severe
aggressive
periodontitis
.
Cathepsin
C
(
CTSC
)
gene
mutations
are
etiologic
for
PLS
,
with
more
than
60
different
mutations
reported
in
different
ethnic
groups
worldwide
.
The
purpose
of
this
study
was
to
report
a
novel
cathepsin
C
mutation
in
a
Brazilian
patient
.
A
4
-
year
-old
boy
presented
with
aggressive
periodontitis
,
recession
,
missing
teeth
,
and
hyperkeratosis
of
the
palms
of
hands
and
soles
.
Peripheral
blood
samples
were
obtained
from
family
members
for
genomic
DNA
isolation
.
The
coding
region
and
exon
/
intron
boundaries
of
the
CTSC
gene
were
amplified
and
sequenced
.
The
patient
had
a
PLS
phenotype
,
which
included
PK
and
early
-onset
severe
periodontitis
.
Sequence
analysis
showed
a
novel
CTSC
mutation
(
c
.
267
-
268
del
)
present
in
the
homozygous
state
.
This
report
described
a
novel
mutation
in
a
family
with
Brazilian
Papillon-
Lefèvre
syndrome
and
presented
a
review
of
all
cathepsin
C
(
65
)
mutations
reported
to
date
.
Diseases
Validation
Diseases presenting
"blood samples"
symptom
22q11.2 deletion syndrome
acute rheumatic fever
adrenomyeloneuropathy
alpha-thalassemia
aniridia
aromatase deficiency
benign recurrent intrahepatic cholestasis
canavan disease
classical phenylketonuria
cohen syndrome
congenital adrenal hyperplasia
congenital toxoplasmosis
cushing syndrome
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
erdheim-chester disease
erythropoietic protoporphyria
esophageal adenocarcinoma
fabry disease
familial mediterranean fever
heparin-induced thrombocytopenia
hirschsprung disease
hodgkin lymphoma, classical
homocystinuria without methylmalonic aciduria
kallmann syndrome
oculocutaneous albinism
oligodontia
oral submucous fibrosis
papillon-lefèvre syndrome
phenylketonuria
primary effusion lymphoma
scrub typhus
sneddon syndrome
systemic capillary leak syndrome
triple a syndrome
typhoid
von hippel-lindau disease
waldenström macroglobulinemia
well-differentiated liposarcoma
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
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