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How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum.
[kabuki syndrome]
MLL
2
mutations
are
detected
in
55
to
80
%
of
patients
with
Kabuki
syndrome
(
KS
)
.
In
20
to
45
%
patients
with
KS
,
the
genetic
basis
remains
unknown
,
suggesting
possible
genetic
heterogeneity
.
Here
,
we
present
the
largest
yet
reported
cohort
of
116
patients
with
KS
.
We
identified
MLL
2
variants
in
74
patients
,
of
which
47
are
novel
and
a
majority
are
truncating
.
We
show
that
pathogenic
missense
mutations
were
commonly
located
in
exon
48
.
We
undertook
a
systematic
facial
KS
morphology
study
of
patients
with
KS
at
our
regional
dysmorphology
meeting
.
Our
data
suggest
that
nearly
all
patients
with
typical
KS
facial
features
have
pathogenic
MLL
2
mutations
,
although
KS
can
be
phenotypically
variable
.
Furthermore
,
we
show
that
MLL
2
mutation
-
positive
KS
patients
are
more
likely
to
have
feeding
problems
,
kidney
anomalies
,
early
breast
bud
development
,
joint
dislocations
and
palatal
malformations
in
comparison
with
MLL
2
mutation
-negative
patients
.
Our
work
expands
the
mutation
spectrum
of
MLL
2
that
may
help
in
better
understanding
of
this
molecule
,
which
is
important
in
gene
expression
,
epigenetic
control
of
active
chromatin
states
,
embryonic
development
and
cancer
.
Our
analyses
of
the
phenotype
indicates
that
MLL
2
mutation
-
positive
and
-
negative
patients
differ
systematically
,
and
genetic
heterogeneity
of
KS
is
not
as
extensive
as
previously
suggested
.
Moreover
,
phenotypic
variability
of
KS
suggests
that
MLL
2
testing
should
be
considered
even
in
atypical
patients
.
Diseases
Validation
Diseases presenting
"kidney anomalies"
symptom
kabuki syndrome
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