Rare Diseases Symptoms Automatic Extraction
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A random Abstract
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A new paradigm emerges from the study of de novo mutations in the context of neurodevelopmental disease.
[kabuki syndrome]
The
study
of
de
novo
point
mutations
(
new
germline
mutations
arising
from
the
gametes
of
the
parents
)
remained
largely
static
until
the
arrival
of
next
-generation
sequencing
technologies
,
which
made
both
whole-exome
sequencing
(
WES
)
and
whole-genome
sequencing
(
WGS
)
feasible
in
practical
terms
.
Single
nucleotide
polymorphism
genotyping
arrays
have
been
used
to
identify
de
novo
copy-number
variants
in
a
number
of
common
neurodevelopmental
conditions
such
as
schizophrenia
and
autism
.
By
contrast
,
as
point
mutations
and
microlesions
occurring
de
novo
are
refractory
to
analysis
by
these
microarray-based
methods
,
little
was
known
about
either
their
frequency
or
impact
upon
neurodevelopmental
disease
,
until
the
advent
of
WES
.
De
novo
point
mutations
have
recently
been
implicated
in
schizophrenia
,
autism
and
mental
retardation
through
the
WES
of
case-parent
trios
.
Taken
together
,
these
findings
strengthen
the
hypothesis
that
the
occurrence
of
de
novo
mutations
could
account
for
the
high
prevalence
of
such
diseases
that
are
associated
with
a
marked
reduction
in
fecundity
.
De
novo
point
mutations
are
also
known
to
be
responsible
for
many
sporadic
cases
of
rare
dominant
mendelian
disorders
such
as
Kabuki
syndrome
,
Schinzel-
Giedion
syndrome
and
Bohring-
Opitz
syndrome
.
These
disorders
share
a
common
feature
in
that
they
are
all
characterized
by
intellectual
disability
.
In
summary
,
recent
WES
studies
of
neurodevelopmental
and
neuropsychiatric
disease
have
provided
new
insights
into
the
role
of
de
novo
mutations
in
these
disorders
.
Our
knowledge
of
de
novo
mutations
is
likely
to
be
further
accelerated
by
WGS
.
However
,
the
collection
of
case-parent
trios
will
be
a
prerequisite
for
such
studies
.
This
review
aims
to
discuss
recent
developments
in
the
study
of
de
novo
mutations
made
possible
by
technological
advances
in
DNA
sequencing
.
Diseases
Validation
Diseases presenting
"intellectual disability"
symptom
22q11.2 deletion syndrome
alexander disease
alpha-thalassemia
aniridia
child syndrome
cohen syndrome
cowden syndrome
hirschsprung disease
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
kabuki syndrome
kallmann syndrome
monosomy 21
oculocutaneous albinism
oligodontia
phenylketonuria
proteus syndrome
triple a syndrome
wolf-hirschhorn syndrome
This symptom has already been validated