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A random Abstract
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Whole-exome sequencing, without prior linkage, identifies a mutation in LAMB3 as a cause of dominant hypoplastic amelogenesis imperfecta.
[junctional epidermolysis bullosa]
The
conventional
approach
to
identifying
the
defective
gene
in
a
family
with
an
inherited
disease
is
to
find
the
disease
locus
through
family
studies
.
However
,
the
rapid
development
and
decreasing
cost
of
next
generation
sequencing
facilitates
a
more
direct
approach
.
Here
,
we
report
the
identification
of
a
frameshift
mutation
in
LAMB
3
as
a
cause
of
dominant
hypoplastic
amelogenesis
imperfecta
(
AI
)
.
Whole-exome
sequencing
of
three
affected
family
members
and
subsequent
filtering
of
shared
variants
,
without
prior
genetic
linkage
,
sufficed
to
identify
the
pathogenic
variant
.
Simultaneous
analysis
of
multiple
family
members
confirms
segregation
,
enhancing
the
power
to
filter
the
genetic
variation
found
and
leading
to
rapid
identification
of
the
pathogenic
variant
.
LAMB
3
encodes
a
subunit
of
Laminin-
5
,
one
of
a
family
of
basement
membrane
proteins
with
essential
functions
in
cell
growth
,
movement
and
adhesion
.
Homozygous
LAMB
3
mutations
cause
junctional
epidermolysis
bullosa
(
JEB
)
and
enamel
defects
are
seen
in
JEB
cases
.
However
,
to
our
knowledge
,
this
is
the
first
report
of
dominant
AI
due
to
a
LAMB
3
mutation
in
the
absence
of
JEB
.
Diseases
Validation
Diseases presenting
"rapid identification of the pathogenic variant"
symptom
junctional epidermolysis bullosa
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