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De novo ACTG2 mutations cause congenital distended bladder, microcolon, and intestinal hypoperistalsis.
[megacystis-microcolon-intestinal hypoperistalsis syndrome]
Megacystis-
microcolon
-
intestinal
hypoperistalsis
syndrome
(
MMIHS
)
is
characterized
by
prenatal
-onset
distended
urinary
bladder
with
functional
intestinal
obstruction
,
requiring
extensive
surgical
intervention
for
survival
.
While
it
is
believed
to
be
an
autosomal
recessive
disorder
,
most
cases
are
sporadic
.
Through
whole-exome
sequencing
in
a
child
with
MMIHS
,
we
identified
a
de
novo
mutation
,
p
.
R
178
L
,
in
the
gene
encoding
the
smooth
muscle
gamma-
2
actin
,
ACTG
2
.
We
subsequently
detected
another
de
novo
ACTG
2
mutation
,
p
.
R
178
C
,
in
an
additional
child
with
MMIHS
.
Actg
2
transcripts
were
primarily
found
in
murine
urinary
bladder
and
intestinal
tissues
.
Structural
analysis
and
functional
experiments
suggested
that
both
ACTG
2
mutants
interfere
with
proper
polymerization
of
ACTG
2
into
thin
filaments
,
leading
to
impaired
contractility
of
the
smooth
muscle
.
In
conclusion
,
our
study
suggests
a
pathogenic
mechanism
for
MMIHS
by
identifying
causative
ACTG
2
mutations
.
Diseases
Validation
Diseases presenting
"requiring extensive surgical intervention for survival"
symptom
megacystis-microcolon-intestinal hypoperistalsis syndrome
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