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Genetic syndromes caused by mutations in epigenetic genes.
[kabuki syndrome]
The
orchestrated
organization
of
epigenetic
factors
that
control
chromatin
dynamism
,
including
DNA
methylation
,
histone
marks
,
non-coding
RNAs
(
ncRNAs
)
and
chromatin-remodeling
proteins
,
is
essential
for
the
proper
function
of
tissue
homeostasis
,
cell
identity
and
development
.
Indeed
,
deregulation
of
epigenetic
profiles
has
been
described
in
several
human
pathologies
,
including
complex
diseases
(
such
as
cancer
,
cardiovascular
and
neurological
diseases
)
,
metabolic
pathologies
(
type
2
diabetes
and
obesity
)
and
imprinting
disorders
.
Over
the
last
decade
it
has
become
increasingly
clear
that
mutations
of
genes
involved
in
epigenetic
mechanism
,
such
as
DNA
methyltransferases
,
methyl-binding
domain
proteins
,
histone
deacetylases
,
histone
methylases
and
members
of
the
SWI
/
SNF
family
of
chromatin
remodelers
are
linked
to
human
disorders
,
including
Immunodeficiency
Centromeric
instability
Facial
syndrome
1
,
Rett
syndrome
,
Rubinstein-
Taybi
syndrome
,
Sotos
syndrome
or
alpha-thalassemia
/
mental
retardation
X-
linked
syndrome
,
among
others
.
As
new
members
of
the
epigenetic
machinery
are
described
,
the
number
of
human
syndromes
associated
with
epigenetic
alterations
increases
.
As
recent
examples
,
mutations
of
histone
demethylases
and
members
of
the
non-coding
RNA
machinery
have
recently
been
associated
with
Kabuki
syndrome
,
Claes
-
Jensen
X-
linked
mental
retardation
syndrome
and
Goiter
syndrome
.
In
this
review
,
we
describe
the
variety
of
germline
mutations
of
epigenetic
modifiers
that
are
known
to
be
associated
with
human
disorders
,
and
discuss
the
therapeutic
potential
of
epigenetic
drugs
as
palliative
care
strategies
in
the
treatment
of
such
disorders
.
Diseases
Validation
Diseases presenting
"cardiovascular and neurological diseases"
symptom
kabuki syndrome
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