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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
"first report"
symptom
achondroplasia
alexander disease
aniridia
cadasil
canavan disease
child syndrome
cohen syndrome
congenital toxoplasmosis
cowden syndrome
cushing syndrome
cutaneous mastocytosis
cystinuria
dedifferentiated liposarcoma
dentinogenesis imperfecta
dracunculiasis
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
erdheim-chester disease
esophageal squamous cell carcinoma
fabry disease
familial mediterranean fever
focal myositis
harlequin ichthyosis
hirschsprung disease
hodgkin lymphoma, classical
holt-oram syndrome
homocystinuria without methylmalonic aciduria
inclusion body myositis
junctional epidermolysis bullosa
kabuki syndrome
kindler syndrome
krabbe disease
lamellar ichthyosis
liposarcoma
lymphangioleiomyomatosis
monosomy 21
neonatal adrenoleukodystrophy
neuralgic amyotrophy
oculocutaneous albinism
oligodontia
omenn syndrome
pendred syndrome
pleomorphic liposarcoma
primary hyperoxaluria type 1
pyomyositis
pyruvate dehydrogenase deficiency
scrub typhus
severe combined immunodeficiency
sneddon syndrome
triple a syndrome
typhoid
waldenström macroglobulinemia
werner syndrome
wiskott-aldrich syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
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