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Decreased DGCR8 expression and miRNA dysregulation in individuals with 22q11.2 deletion syndrome.
[22q11.2 deletion syndrome]
Deletion
of
the
1
.
5
-
3
Mb
region
of
chromosome
22
at
locus
11
.
2
gives
rise
to
the
chromosome
22
q
11
.
2
deletion
syndrome
(
22
q
11
DS
)
,
also
known
as
DiGeorge
and
Velocardiofacial
Syndromes
.
It
is
the
most
common
micro-deletion
disorder
in
humans
and
one
of
the
most
common
multiple
malformation
syndromes
.
The
syndrome
is
characterized
by
a
broad
phenotype
,
whose
characterization
has
expanded
considerably
within
the
last
decade
and
includes
many
associated
findings
such
as
craniofacial
anomalies
(
40
%
)
,
conotruncal
defects
of
the
heart
(
CHD
;
70
-
80
%
)
,
hypocalcemia
(
20
-
60
%
)
,
and
a
range
of
neurocognitive
anomalies
with
high
risk
of
schizophrenia
,
all
with
a
broad
phenotypic
variability
.
These
phenotypic
features
are
believed
to
be
the
result
of
a
change
in
the
copy
number
or
dosage
of
the
genes
located
in
the
deleted
region
.
Despite
this
relatively
clear
genetic
etiology
,
very
little
is
known
about
which
genes
modulate
phenotypic
variations
in
humans
or
if
they
are
due
to
combinatorial
effects
of
reduced
dosage
of
multiple
genes
acting
in
concert
.
Here
,
we
report
on
decreased
expression
levels
of
genes
within
the
deletion
region
of
chromosome
22
,
including
DGCR
8
,
in
peripheral
leukocytes
derived
from
individuals
with
22
q
11
DS
compared
to
healthy
controls
.
Furthermore
,
we
found
dysregulated
miRNA
expression
in
individuals
with
22
q
11
DS
,
including
miR-
150
,
miR-
194
and
miR-
185
.
We
postulate
this
to
be
related
to
DGCR
8
haploinsufficiency
as
DGCR
8
regulates
miRNA
biogenesis
.
Importantly
we
demonstrate
that
the
level
of
some
miRNAs
correlates
with
brain
measures
,
CHD
and
thyroid
abnormalities
,
suggesting
that
the
dysregulated
miRNAs
may
contribute
to
these
phenotypes
and
/
or
represent
relevant
blood
biomarkers
of
the
disease
in
individuals
with
22
q
11
DS
.
Diseases
Validation
Diseases presenting
"hypocalcemia"
symptom
22q11.2 deletion syndrome
child syndrome
cystinuria
familial hypocalciuric hypercalcemia
oligodontia
primary hyperoxaluria type 1
This symptom has already been validated
