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MLL2 and KDM6A mutations in patients with Kabuki syndrome.
[kabuki syndrome]
Kabuki
syndrome
is
a
congenital
anomaly
syndrome
characterized
by
developmental
delay
,
intellectual
disability
,
specific
facial
features
including
long
palpebral
fissures
and
ectropion
of
the
lateral
third
of
the
lower
eyelids
,
prominent
digit
pads
,
and
skeletal
and
visceral
abnormalities
.
Mutations
in
MLL
2
and
KDM
6
A
cause
Kabuki
syndrome
.
We
screened
81
individuals
with
Kabuki
syndrome
for
mutations
in
these
genes
by
conventional
methods
(
n
=
58
)
and
/
or
targeted
resequencing
(
n
=
45
)
or
whole
exome
sequencing
(
n
=
5
)
.
We
identified
a
mutation
in
MLL
2
or
KDM
6
A
in
50
(
61
.
7
%
)
and
5
(
6
.
2
%
)
cases
,
respectively
.
Thirty
-
five
MLL
2
mutations
and
two
KDM
6
A
mutations
were
novel
.
Non-protein
truncating-
type
MLL
2
mutations
were
mainly
located
around
functional
domains
,
while
truncating-
type
mutations
were
scattered
through
the
entire
coding
region
.
The
facial
features
of
patients
in
the
MLL
2
truncating-
type
mutation
group
were
typical
based
on
those
of
the
10
originally
reported
patients
with
Kabuki
syndrome
;
those
of
the
other
groups
were
less
typical
.
High
arched
eyebrows
,
short
fifth
finger
,
and
hypotonia
in
infancy
were
more
frequent
in
the
MLL
2
mutation
group
than
in
the
KDM
6
A
mutation
group
.
Short
stature
and
postnatal
growth
retardation
were
observed
in
all
individuals
with
KDM
6
A
mutations
,
but
in
only
half
of
the
group
with
MLL
2
mutations
.
Diseases
Validation
Diseases presenting
"ectropion of the lateral third of the lower eyelids"
symptom
kabuki syndrome
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