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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
"cancer"
symptom
achondroplasia
acute rheumatic fever
adrenal incidentaloma
alpha-thalassemia
benign recurrent intrahepatic cholestasis
cadasil
canavan disease
carcinoma of the gallbladder
cholangiocarcinoma
coats disease
congenital adrenal hyperplasia
congenital diaphragmatic hernia
cowden syndrome
cushing syndrome
cutaneous mastocytosis
dedifferentiated liposarcoma
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
erdheim-chester disease
erythropoietic protoporphyria
esophageal adenocarcinoma
esophageal carcinoma
esophageal squamous cell carcinoma
familial hypocalciuric hypercalcemia
familial mediterranean fever
gm1 gangliosidosis
heparin-induced thrombocytopenia
hereditary cerebral hemorrhage with amyloidosis
hirschsprung disease
hodgkin lymphoma, classical
inclusion body myositis
junctional epidermolysis bullosa
kabuki syndrome
kallmann syndrome
kindler syndrome
lamellar ichthyosis
liposarcoma
locked-in syndrome
lymphangioleiomyomatosis
monosomy 21
neuralgic amyotrophy
oculocutaneous albinism
oligodontia
oral submucous fibrosis
papillon-lefèvre syndrome
pendred syndrome
pleomorphic liposarcoma
primary effusion lymphoma
proteus syndrome
pyomyositis
pyruvate dehydrogenase deficiency
severe combined immunodeficiency
sneddon syndrome
systemic capillary leak syndrome
triple a syndrome
von hippel-lindau disease
waldenström macroglobulinemia
well-differentiated liposarcoma
werner syndrome
wiskott-aldrich syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
This symptom has already been validated