Rare Diseases Symptoms Automatic Extraction
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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
.