Rare Diseases Symptoms Automatic Extraction
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A random Abstract
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KDM6A point mutations cause Kabuki syndrome.
[kabuki syndrome]
Kabuki
syndrome
(
KS
)
is
a
rare
congenital
anomaly
syndrome
characterized
by
a
unique
facial
appearance
,
growth
retardation
,
skeletal
abnormalities
,
and
intellectual
disability
.
In
2010
,
MLL
2
was
identified
as
a
causative
gene
.
On
the
basis
of
published
reports
,
55
-
80
%
of
KS
cases
can
be
explained
by
MLL
2
abnormalities
.
Recently
,
de
novo
deletion
of
KDM
6
A
has
been
reported
in
three
KS
patients
,
but
point
mutations
of
KDM
6
A
have
never
been
found
.
In
this
study
,
we
investigated
KDM
6
A
in
32
KS
patients
without
an
MLL
2
mutation
.
We
identified
two
nonsense
mutations
and
one
3
-
bp
deletion
of
KDM
6
A
in
three
KS
cases
.
This
is
the
first
report
of
KDM
6
A
point
mutations
associated
with
KS
.