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Identification of KMT2D and KDM6A mutations by exome sequencing in Korean patients with Kabuki syndrome.
[kabuki syndrome]
Kabuki
syndrome
(
KS
)
(
OMIM
#
147920
)
is
a
multiple
congenital
anomaly
/
mental
retardation
syndrome
.
Recently
,
pathogenic
variants
in
KMT
2
D
and
KDM
6
A
were
identified
as
the
causes
of
KS
in
55
.
8
-
80
.
0
%
of
patients
.
To
elucidate
further
the
molecular
characteristics
of
Korean
patients
with
KS
,
we
screened
a
cohort
of
patients
with
clinically
defined
KS
for
mutations
in
KMT
2
D
and
KDM
6
A
.
Whole-exome
sequencing
and
direct
sequencing
for
validation
were
performed
in
12
patients
with
a
clinical
suspicion
of
KS
.
KMT
2
D
and
KDM
6
A
mutations
were
identified
in
11
(
91
.
7
%
)
patients
.
No
recurrent
mutation
was
observed
,
and
10
out
of
the
11
mutations
found
were
novel
.
KMT
2
D
mutations
were
detected
in
10
patients
,
including
four
small
deletions
or
insertions
and
four
nonsense
and
two
missense
mutations
.
One
girl
had
a
novel
splice-site
mutation
in
KDM
6
A
.
Each
patient
had
a
unique
individual
mutation
.
This
is
the
first
report
of
mutational
analysis
via
exome
sequencing
in
Korean
patients
with
KS
.
Because
the
mutation
-detection
rate
was
high
in
this
study
,
rigorous
mutation
analysis
of
KMT
2
D
and
KDM
6
A
may
be
an
important
tool
for
the
early
diagnosis
and
genetic
counseling
of
Korean
patients
with
KS
.
Diseases
Validation
Diseases presenting
"recurrent mutation"
symptom
erdheim-chester disease
junctional epidermolysis bullosa
kabuki syndrome
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