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An inherited LMNA gene mutation in atypical Progeria syndrome.
[werner syndrome]
Hutchinson
-
Gilford
Progeria
syndrome
(
HGPS
)
is
a
rare
genetic
disorder
,
characterized
by
several
clinical
features
that
begin
in
early
childhood
,
recalling
an
accelerated
aging
process
.
The
diagnosis
of
HGPS
is
based
on
the
recognition
of
common
clinical
features
and
detection
of
the
recurrent
heterozygous
c
.
1824
C
>
T
(
p
.
Gly
608
G
ly
)
mutation
within
exon
11
in
the
Lamin
A
/
C
encoding
gene
(
LMNA
)
.
Besides
"
typical
HGPS
,
"
several
"
atypical
progeria
"
syndromes
(
APS
)
have
been
described
,
in
a
clinical
spectrum
ranging
from
mandibuloacral
dysplasia
to
atypical
Werner
syndrome
.
These
patients
's
clinical
features
include
progeroid
manifestations
,
such
as
short
stature
,
prominent
nose
,
premature
graying
of
hair
,
partial
alopecia
,
skin
atrophy
,
lipodystrophy
,
skeletal
anomalies
,
such
as
mandibular
hypoplasia
and
acroosteolyses
,
and
in
some
cases
severe
atherosclerosis
with
metabolic
complications
.
APS
are
due
in
several
cases
to
de
novo
heterozygous
LMNA
mutations
other
than
the
p
.
Gly
608
Gly
,
or
due
to
homozygous
BAFN
1
mutations
in
Nestor
-
Guillermo
Progeria
syndrome
(
NGPS
)
.
We
report
here
and
discuss
the
observation
of
a
non-consanguineous
Moroccan
patient
presenting
with
atypical
progeria
.
The
molecular
studies
showed
the
heterozygous
mutation
c
.
412
G
>
A
(
p
.
Glu
138
Lys
)
of
the
LMNA
gene
.
This
mutation
,
previously
reported
as
a
de
novo
mutation
,
was
inherited
from
the
apparently
healthy
father
who
showed
a
somatic
cell
mosaicism
.
Diseases
Validation
Diseases presenting
"rare genetic disorder"
symptom
aniridia
aromatase deficiency
cohen syndrome
congenital adrenal hyperplasia
cushing syndrome
fabry disease
familial hypocalciuric hypercalcemia
hirschsprung disease
holt-oram syndrome
kabuki syndrome
kindler syndrome
lamellar ichthyosis
megacystis-microcolon-intestinal hypoperistalsis syndrome
oculocutaneous albinism
oligodontia
papillon-lefèvre syndrome
proteus syndrome
triple a syndrome
werner syndrome
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