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Mapping the deletion endpoints in individuals with 22q11.2 Deletion Syndrome by droplet digital PCR.
[22q11.2 deletion syndrome]
Chromosome
22
q
11
.
2
deletion
syndrome
(
22
q
11
DS
)
is
the
most
common
human
microdeletion
syndrome
and
is
associated
with
many
cognitive
,
neurological
and
psychiatric
disorders
.
The
majority
of
individuals
have
a
3
Â
Mb
deletion
while
others
have
a
nested
1
.
5
Â
Mb
deletion
,
but
rare
atypical
deletions
have
also
been
described
.
To
date
,
a
study
using
droplet
digital
PCR
(
ddPCR
)
has
not
been
conducted
to
systematically
map
the
chromosomal
breakpoints
in
individuals
with
22
q
11
DS
,
which
would
provide
important
genotypic
insight
into
the
various
phenotypes
observed
in
this
syndrome
.
This
study
uses
ddPCR
to
assess
copy
number
(
CN
)
changes
within
the
chromosome
22
q
11
deletion
region
and
allows
the
mapping
of
the
deletion
endpoints
.
We
used
eight
TaqMan
assays
interspersed
throughout
the
deleted
region
of
22
q
11
.
2
to
characterize
the
deleted
region
of
chromosome
22
in
80
individuals
known
to
have
22
q
11
DS
by
FISH
.
Ten
EvaGreen
assays
were
used
for
finer
mapping
of
the
six
identified
individuals
with
22
q
11
DS
atypical
deletions
and
covering
different
regions
of
chromosome
22
.
ddPCR
provided
non-
ambiguous
CN
measurements
across
the
region
,
confirmed
the
presence
of
the
deletion
in
the
individuals
screened
,
and
led
to
the
identification
of
five
differently
sized
and
located
deletions
.
The
majority
of
the
participants
(
n
 
=
 
74
)
had
the
large
3
Â
Mb
deletions
,
whereas
three
had
the
smaller
1
.
5
Â
Mb
deletions
,
and
the
remaining
three
had
an
interstitial
deletion
of
different
size
.
The
lower
cost
,
rapid
execution
and
high
reliability
and
specificity
provided
by
ddPCR
for
CN
measurements
in
the
22
q
11
region
constitutes
a
significant
improvement
over
the
variable
CN
values
generated
by
other
technologies
.
The
ability
of
the
ddPCR
approach
,
to
provide
a
high
resolution
mapping
of
deletion
endpoints
may
result
in
the
identification
of
genes
that
are
haplo-insufficient
and
play
a
role
in
the
pathogenesis
of
22
q
11
DS
.
Finally
,
this
methodology
can
be
applied
to
the
characterization
of
other
microdeletions
throughout
the
genome
.
Diseases
Validation
Diseases presenting
"psychiatric disorders"
symptom
22q11.2 deletion syndrome
alexander disease
cadasil
oligodontia
This symptom has already been validated
