Rare Diseases Symptoms Automatic Extraction
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hnRNPA2B1 and hnRNPA1 mutations are rare in patients with "multisystem proteinopathy" and frontotemporal lobar degeneration phenotypes.
[inclusion body myositis]
hnRNPA
2
B
1
and
hnRNPA
1
mutations
have
been
recently
identified
by
exome
sequencing
in
three
families
presenting
with
multisystem
proteinopathy
(
MSP
)
,
a
rare
complex
phenotype
associating
frontotemporal
lobar
degeneration
(
FTLD
)
,
Paget
disease
of
bone
(
PDB
)
,
inclusion
body
myopathy
(
IBM
)
,
and
amyotrophic
lateral
sclerosis
(
ALS
)
.
No
study
has
evaluated
the
exact
frequency
of
these
genes
in
cohorts
of
MSP
or
FTD
patients
so
far
.
We
sequenced
both
genes
in
17
patients
with
MSP
phenotypes
,
and
in
60
patients
with
FTLD
and
FTLD-
ALS
to
test
whether
mutations
could
be
implicated
in
the
pathogenesis
of
these
disorders
.
No
disease-causing
mutation
was
identified
.
We
conclude
that
hnRNPA
2
B
1
and
hnRNPA
1
mutations
are
rare
in
MSP
and
FTLD
spectrum
of
diseases
,
although
further
investigations
in
larger
populations
are
needed
.
Diseases
Validation
Diseases presenting
"myopathy"
symptom
coats disease
cushing syndrome
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
familial mediterranean fever
focal myositis
homocystinuria without methylmalonic aciduria
inclusion body myositis
junctional epidermolysis bullosa
lymphangioleiomyomatosis
megacystis-microcolon-intestinal hypoperistalsis syndrome
pyruvate dehydrogenase deficiency
This symptom has already been validated