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Mydriasis in association with MMIHS in a female infant: evidence for involvement of the neuronal nicotinic acetylcholine receptor.
[megacystis-microcolon-intestinal hypoperistalsis syndrome]
We
report
a
case
of
megacystis-
microcolon
-
intestinal
hypoperistalsis
syndrome
(
MMIHS
)
,
occurring
in
association
with
mydriasis
,
in
a
female
infant
born
to
consanguineous
Asian
parents
.
This
association
has
not
previously
been
reported
and
is
of
interest
because
mydriasis
has
been
found
in
a
murine
MMIHS
model
produced
by
knockout
of
the
genes
coding
for
the
alpha
3
subunit
or
the
beta
2
and
beta
4
subunits
of
the
neuronal
nicotinic
acetylcholine
receptor
.
This
may
provide
an
important
clue
to
the
genetic
basis
of
MMIHS
in
humans
.
