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First Japanese case of atypical progeroid syndrome/atypical Werner syndrome with heterozygous LMNA mutation.
[werner syndrome]
Atypical
progeroid
syndrome
(
APS
)
,
including
atypical
Werner
syndrome
(
AWS
)
,
is
a
progeroid
syndrome
involving
heterozygous
mutations
in
the
LMNA
gene
encoding
the
nuclear
protein
lamin
A
/
C
.
We
report
the
first
Japanese
case
of
APS
/
AWS
with
a
LMNA
mutation
(
p
.
D
300
N
)
.
A
53
-
year
-old
Japanese
man
had
a
history
of
recurrent
severe
cardiovascular
diseases
as
well
as
brain
infarction
and
hemorrhages
.
Although
our
APS
/
AWS
patient
had
overlapping
features
with
Werner
syndrome
(
WS
)
,
such
as
high-pitched
voice
,
scleroderma
,
lipoatrophy
and
atherosclerosis
,
several
cardinal
features
of
WS
,
including
short
stature
,
premature
graying
/
alopecia
,
cataract
,
bird-like
face
,
flat
feet
,
hyperkeratosis
on
the
soles
and
diabetes
mellitus
,
were
absent
.
In
immunofluorescence
staining
and
electron
microscopic
analyses
of
the
patient
's
cultured
fibroblasts
,
abnormal
nuclear
morphology
,
an
increase
in
small
aggregation
of
heterochromatin
and
a
decrease
in
interchromatin
granules
in
nuclei
of
fibroblasts
were
observed
,
suggesting
that
abnormal
nuclear
morphology
and
chromatin
disorganization
may
be
associated
with
the
pathogenesis
of
APS
/
AWS
.
Diseases
Validation
Diseases presenting
"hemorrhages"
symptom
coats disease
hereditary cerebral hemorrhage with amyloidosis
werner syndrome
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