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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
"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