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CHARGE and Kabuki syndromes: a phenotypic and molecular link.
[kabuki syndrome]
CHARGE
syndrome
is
a
complex
developmental
disorder
caused
by
mutations
in
the
chromodomain
helicase
DNA-binding
gene
CHD
7
.
Kabuki
syndrome
,
another
developmental
disorder
,
is
characterized
by
typical
facial
features
in
combination
with
developmental
delay
,
short
stature
,
prominent
digit
pads
and
visceral
abnormalities
.
Mutations
in
the
KMT
2
D
gene
,
which
encodes
a
H
3
K
4
histone
methyltransferase
,
are
the
major
cause
of
Kabuki
syndrome
.
Here
,
we
report
a
patient
,
who
was
initially
diagnosed
with
CHARGE
syndrome
based
on
the
spectrum
of
inner
organ
malformations
like
choanal
hypoplasia
,
heart
defect
,
anal
atresia
,
vision
problems
and
conductive
hearing
impairment
.
While
sequencing
and
MLPA
analysis
of
all
coding
exons
of
CHD
7
revealed
no
pathogenic
mutation
,
sequence
analysis
of
the
KMT
2
D
gene
identified
the
heterozygous
de
novo
nonsense
mutation
c
.
5263
C
>
T
(
p
.
Gln
1755
*
)
.
Thus
,
our
patient
was
diagnosed
with
Kabuki
syndrome
.
By
using
co
-immunoprecipitation
,
immunohistochemistry
and
direct
yeast
two
hybrid
assays
,
we
could
show
that
,
like
KMT
2
D
,
CHD
7
interacts
with
members
of
the
WAR
complex
,
namely
WDR
5
,
ASH
2
L
and
RbBP
5
.
We
therefore
propose
that
CHD
7
and
KMT
2
D
function
in
the
same
chromatin
modification
machinery
,
thus
pointing
out
a
mechanistic
connection
,
and
presenting
a
probable
explanation
for
the
phenotypic
overlap
between
Kabuki
and
CHARGE
syndromes
.
Diseases
Validation
Diseases presenting
"charge syndrome based on the spectrum of inner organ malformations like choanal hypoplasia"
symptom
kabuki syndrome
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