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Bronchial isomerism in a Kabuki syndrome patient with a novel mutation in MLL2 gene.
[kabuki syndrome]
Kabuki
syndrome
(
KS
)
is
a
rare
,
multiple
congenital
anomalies
/
intellectual
disability
syndrome
caused
by
mutations
of
MLL
2
gene
,
which
codifies
for
a
histone
methyltrasferase
that
regulates
the
embryogenesis
and
the
tissue
development
.
Left-bronchial
isomerism
is
a
rare
congenital
abnormality
that
can
be
defined
as
the
absence
of
the
normal
lateralizing
features
which
distinguish
right
and
left-sides
in
the
lungs
.
To
date
,
this
is
the
first
report
of
left-bronchial
isomerism
in
association
with
KS
.
A
one
-
month
-old
Caucasian
male
patient
underwent
our
attention
for
microcephaly
,
dysmorphic
features
(
long
palpebral
fissures
,
eyebrows
with
sparse
lateral
third
,
everted
lower
eyelids
,
blue
sclerae
,
large
dysplastic
ears
,
lower
lip
pits
)
,
persistent
fetal
fingertip
pads
,
short
stature
,
heart
defects
(
interventricular
defect
and
aortic
coarctation
)
,
unilateral
cryptorchidism
,
hypotonia
and
delay
in
gross
motor
skills
.
These
features
suggested
a
diagnosis
of
KS
and
a
molecular
analysis
confirmed
a
novel
frame-shift
mutation
in
the
exon
11
of
MLL
2
gene
.
Subsequently
,
given
recurrent
respiratory
infections
with
a
normal
immunological
status
,
he
underwent
a
chest
CT
scan
that
showed
a
left
bronchial
isomerism
.
We
report
a
patient
affected
by
KS
,
with
a
novel
MLL
2
mutation
and
an
atypical
phenotype
characterized
by
left-side
bronchial
isomerism
.
Interestingly
,
genes
involved
in
the
heterotaxia
/
isomerism
such
as
ROCK
2
and
SHROOM
3
are
known
to
interact
with
MLL
2
gene
.
In
order
to
achieve
a
correct
diagnosis
and
an
appropriate
therapy
,
the
presence
of
pulmonary
anatomical
variations
should
be
investigated
in
KS
patients
with
respiratory
signs
not
associated
to
immunological
deficiency
.
Finally
,
our
findings
support
the
hypothesis
that
the
mutations
leading
to
a
complete
loss
of
function
of
MLL
2
gene
is
often
associated
with
complex
visceral
malformations
.
Diseases
Validation
Diseases presenting
"atypical phenotype"
symptom
cohen syndrome
cowden syndrome
fabry disease
kabuki syndrome
omenn syndrome
proteus syndrome
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