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MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study.
[kabuki syndrome]
Recently
,
pathogenic
variants
in
the
MLL
2
gene
were
identified
as
the
most
common
cause
of
Kabuki
(
Niikawa-
Kuroki
)
syndrome
(
MIM
#
147920
)
.
To
further
elucidate
the
genotype-phenotype
correlation
,
we
studied
a
large
cohort
of
86
clinically
defined
patients
with
Kabuki
syndrome
(
KS
)
for
mutations
in
MLL
2
.
All
patients
were
assessed
using
a
standardized
phenotype
list
and
all
were
scored
using
a
newly
developed
clinical
score
list
for
KS
(
MLL
2
-
Kabuki
score
0
-
10
)
.
Sequencing
of
the
full
coding
region
and
intron-exon
boundaries
of
MLL
2
identified
a
total
of
45
likely
pathogenic
mutations
(
52
%
)
:
31
nonsense
,
10
missense
and
four
splice-site
mutations
,
34
of
which
were
novel
.
In
five
additional
patients
,
novel
,
i
.
e
.
non-db
SNP
132
variants
of
clinically
unknown
relevance
,
were
identified
.
Patients
with
likely
pathogenic
nonsense
or
missense
MLL
2
mutations
were
usually
more
severely
affected
(
median
'
MLL
2
-
Kabuki
score
'
of
6
)
as
compared
to
the
patients
without
MLL
2
mutations
(
median
'
MLL
2
-
Kabuki
score
'
of
5
)
,
a
significant
difference
(
p
<
0
.
0014
)
.
Several
typical
facial
features
such
as
large
dysplastic
ears
,
arched
eyebrows
with
sparse
lateral
third
,
blue
sclerae
,
a
flat
nasal
tip
with
a
broad
nasal
root
,
and
a
thin
upper
and
a
full
lower
lip
were
observed
more
often
in
mutation
positive
patients
.
Diseases
Validation
Diseases presenting
"large cohort"
symptom
adrenal incidentaloma
adrenomyeloneuropathy
cadasil
child syndrome
congenital diaphragmatic hernia
cushing syndrome
cystinuria
erdheim-chester disease
esophageal adenocarcinoma
esophageal carcinoma
esophageal squamous cell carcinoma
fabry disease
familial mediterranean fever
inclusion body myositis
junctional epidermolysis bullosa
kabuki syndrome
krabbe disease
oligodontia
pendred syndrome
phenylketonuria
thoracic outlet syndrome
waldenström macroglobulinemia
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