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Efficient application of next-generation sequencing for the diagnosis of rare genetic syndromes.
[cohen syndrome]
The
causes
of
intellectual
disability
,
which
affects
1
%
-
3
%
of
the
general
population
,
are
highly
heterogeneous
and
the
genetic
defect
remains
unknown
in
around
40
%
of
patients
.
The
application
of
next
-generation
sequencing
is
changing
the
nature
of
biomedical
diagnosis
.
This
technology
has
quickly
become
the
method
of
choice
for
searching
for
pathogenic
mutations
in
rare
uncharacterised
genetic
diseases
.
Whole-exome
sequencing
was
applied
to
a
series
of
families
affected
with
intellectual
disability
in
order
to
identify
variants
underlying
disease
phenotypes
.
We
present
data
of
three
families
in
which
we
identified
the
disease-causing
mutations
and
which
benefited
from
receiving
a
clinical
diagnosis
:
Cornelia
de
Lange
,
Cohen
syndrome
and
Dent
-
2
disease
.
The
genetic
heterogeneity
and
the
variability
in
clinical
presentation
of
these
disorders
could
explain
why
these
patients
are
difficult
to
diagnose
.
The
accessibility
to
next
-generation
sequencing
allows
clinicians
to
save
much
time
and
cost
in
identifying
the
aetiology
of
rare
diseases
.
The
presented
cases
are
excellent
examples
that
demonstrate
the
efficacy
of
next
-generation
sequencing
in
rare
disease
diagnosis
.
Diseases
Validation
Diseases presenting
"intellectual disability in order"
symptom
cohen syndrome
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