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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
"mental retardation"
symptom
achondroplasia
alexander disease
alpha-thalassemia
aniridia
aromatase deficiency
canavan disease
classical phenylketonuria
coats disease
cohen syndrome
cowden syndrome
cystinuria
dentin dysplasia
familial hypocalciuric hypercalcemia
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
kabuki syndrome
kallmann syndrome
lamellar ichthyosis
lymphangioleiomyomatosis
monosomy 21
phenylketonuria
primary hyperoxaluria type 1
proteus syndrome
pyruvate dehydrogenase deficiency
sneddon syndrome
triple a syndrome
wolf-hirschhorn syndrome
zellweger syndrome
This symptom has already been validated