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Novel KDM6A (UTX) mutations and a clinical and molecular review of the X-linked Kabuki syndrome (KS2).
[kabuki syndrome]
We
describe
seven
patients
with
KDM
6
A
(
located
on
Xp
11
.
3
and
encodes
UTX
)
mutations
,
a
rare
cause
of
Kabuki
syndrome
(
KS
2
,
MIM
300867
)
and
report
,
for
the
first
time
,
germ-line
missense
and
splice-site
mutations
in
the
gene
.
We
demonstrate
that
less
than
5
%
cases
of
Kabuki
syndrome
are
due
to
KDM
6
A
mutations
.
Our
work
shows
that
similar
to
the
commoner
Type
1
Kabuki
syndrome
(
KS
1
,
MIM
147920
)
caused
by
KMT
2
D
(
previously
called
MLL
2
)
mutations
,
KS
2
patients
are
characterized
by
hypotonia
and
feeding
difficulties
during
infancy
and
poor
postnatal
growth
and
short
stature
.
Unlike
KS
1
,
developmental
delay
and
learning
disability
are
generally
moderate
-
severe
in
boys
but
mild
-
moderate
in
girls
with
KS
2
.
Some
girls
may
have
a
normal
developmental
profile
.
Speech
and
cognition
tend
to
be
more
severely
affected
than
motor
development
.
Increased
susceptibility
to
infections
,
join
laxity
,
heart
,
dental
and
ophthalmological
anomalies
are
common
.
Hypoglycaemia
is
more
common
in
KS
2
than
in
KS
1
.
Facial
dysmorphism
with
KDM
6
A
mutations
is
variable
and
diagnosis
on
facial
gestalt
alone
may
be
difficult
in
some
patients
.
Hypertrichosis
,
long
halluces
and
large
central
incisors
may
be
useful
clues
to
an
underlying
KDM
6
A
mutation
in
some
patients
.
Diseases
Validation
Diseases presenting
"facial gestalt"
symptom
cohen syndrome
kabuki syndrome
oligodontia
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