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MLL2 mosaic mutations and intragenic deletion-duplications in patients with Kabuki syndrome.
[kabuki syndrome]
Kabuki
syndrome
(
KS
)
is
a
rare
multi-system
disorder
that
can
result
in
a
variety
of
congenital
malformations
,
typical
dysmorphism
and
variable
learning
disability
.
It
is
caused
by
MLL
2
point
mutations
in
the
majority
of
the
cases
and
,
rarely
by
deletions
involving
KDM
6
A
.
Nearly
one
third
of
cases
remain
unsolved
.
Here
,
we
expand
the
known
genetic
basis
of
KS
by
presenting
five
typical
patients
with
the
condition
,
all
of
whom
have
novel
MLL
2
mutation
types-
two
patients
with
mosaic
small
deletions
,
one
with
a
mosaic
whole-
gene
deletion
,
one
with
a
multi-exon
deletion
and
one
with
an
intragenic
multi-exon
duplication
.
We
recommend
MLL
2
dosage
studies
for
all
patients
with
typical
KS
,
where
traditional
Sanger
sequencing
fails
to
identify
mutations
.
The
prevalence
of
such
MLL
2
mutations
in
KS
may
be
comparable
with
deletions
involving
KDM
6
A
.
These
findings
may
be
helpful
in
understanding
the
mutational
mechanism
of
MLL
2
and
the
disease
mechanism
of
KS
.
Diseases
Validation
Diseases presenting
"a variety of congenital malformations"
symptom
kabuki syndrome
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