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Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients.
[kabuki syndrome]
Kabuki
syndrome
(
Niikawa-
Kuroki
syndrome
)
is
a
rare
,
multiple
congenital
anomalies
/
mental
retardation
syndrome
characterized
by
a
peculiar
face
,
short
stature
,
skeletal
,
visceral
and
dermatoglyphic
abnormalities
,
cardiac
anomalies
,
and
immunological
defects
.
Recently
mutations
in
the
histone
methyl
transferase
MLL
2
gene
have
been
identified
as
its
underlying
cause
.
G
enomic
DNAs
were
extracted
from
62
index
patients
clinically
diagnosed
as
affected
by
Kabuki
syndrome
.
Sanger
sequencing
was
performed
to
analyze
the
whole
coding
region
of
the
MLL
2
gene
including
intron-exon
junctions
.
The
putative
causal
and
possible
functional
effect
of
each
nucleotide
variant
identified
was
estimated
by
in
silico
prediction
tools
.
We
identified
45
patients
with
MLL
2
nucleotide
variants
.
38
out
of
the
42
variants
were
never
described
before
.
Consistently
with
previous
reports
,
the
majority
are
nonsense
or
frameshift
mutations
predicted
to
generate
a
truncated
polypeptide
.
We
also
identified
3
indel
,
7
missense
and
3
splice
site
.
This
study
emphasizes
the
relevance
of
mutational
screening
of
the
MLL
2
gene
among
patients
diagnosed
with
Kabuki
syndrome
.
The
identification
of
a
large
spectrum
of
MLL
2
mutations
possibly
offers
the
opportunity
to
improve
the
actual
knowledge
on
the
clinical
basis
of
this
multiple
congenital
anomalies
/
mental
retardation
syndrome
,
design
functional
studies
to
understand
the
molecular
mechanisms
underlying
this
disease
,
establish
genotype-phenotype
correlations
and
improve
clinical
management
.
Diseases
Validation
Diseases presenting
"skeletal"
symptom
child syndrome
kabuki syndrome
monosomy 21
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