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Molecular pathogenesis of congenital diaphragmatic hernia revealed by exome sequencing, developmental data, and bioinformatics.
[congenital diaphragmatic hernia]
Congenital
diaphragmatic
hernia
(
CDH
)
is
a
common
and
severe
birth
defect
.
Despite
its
clinical
significance
,
the
genetic
and
developmental
pathways
underlying
this
disorder
are
incompletely
understood
.
In
this
study
,
we
report
a
catalog
of
variants
detected
by
a
whole
exome
sequencing
study
on
275
individuals
with
CDH
.
Predicted
pathogenic
variants
in
genes
previously
identified
in
either
humans
or
mice
with
diaphragm
defects
are
enriched
in
our
CDH
cohort
compared
with
120
size-matched
random
gene
sets
.
This
enrichment
was
absent
in
control
populations
.
Variants
in
these
critical
genes
can
be
found
in
up
to
30
.
9
%
of
individuals
with
CDH
.
In
addition
,
we
filtered
variants
by
using
genes
derived
from
regions
of
recurrent
copy
number
variations
in
CDH
,
expression
profiles
of
the
developing
diaphragm
,
protein
interaction
networks
expanded
from
the
known
CDH
-causing
genes
,
and
prioritized
genes
with
ultrarare
and
highly
disruptive
variants
,
in
11
.
3
%
of
CDH
patients
.
These
strategies
have
identified
several
high
priority
genes
and
developmental
pathways
that
likely
contribute
to
the
CDH
phenotype
.
These
data
are
valuable
for
comparison
of
candidate
genes
generated
from
whole
exome
sequencing
of
other
CDH
cohorts
or
multiplex
kindreds
and
provide
ideal
candidates
for
further
functional
studies
.
Furthermore
,
we
propose
that
these
genes
and
pathways
will
enhance
our
understanding
of
the
heterogeneous
molecular
etiology
of
CDH
.
Diseases
Validation
Diseases presenting
"size-matched random gene sets"
symptom
congenital diaphragmatic hernia
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