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A random Abstract
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Homozygosity mapping as a screening tool for the molecular diagnosis of hereditary skin diseases in consanguineous populations.
[junctional epidermolysis bullosa]
The
routine
diagnosis
of
genodermatoses
is
significantly
complicated
by
the
fact
that
in
this
group
of
disorders
,
clinical
manifestations
may
result
from
mutations
in
unrelated
genes
(
genetic
heterogeneity
)
and
mutations
in
the
same
gene
often
lead
to
dissimilar
clinical
signs
(
phenotypic
heterogeneity
)
.
In
this
study
,
we
applied
the
principles
of
homozygosity
mapping
as
a
screening
method
before
formal
mutational
analysis
in
an
attempt
to
facilitate
the
molecular
diagnosis
of
genodermatoses
in
consanguineous
families
.
The
method
was
evaluated
in
a
retrospective
fashion
in
4
families
previously
assessed
with
junctional
epidermolysis
bullosa
and
in
a
prospective
manner
in
11
families
with
congenital
recessive
ichthyosis
.
The
method
was
found
to
be
efficient
in
directing
the
molecular
analysis
to
one
of
the
4
genes
commonly
involved
in
the
pathogenesis
of
junctional
epidermolysis
bullosa
or
in
identifying
cases
of
congenital
recessive
ichthyosis
caused
by
mutations
in
TGM
1
.
We
found
that
this
diagnostic
strategy
results
in
a
5
-
fold
decrease
in
the
cost
of
mutation
analysis
.
The
proposed
diagnostic
strategy
is
applicable
to
consanguineous
families
only
and
,
therefore
,
can
not
be
used
in
outbred
populations
.
Our
results
indicate
that
homozygosity
mapping
may
serve
as
a
useful
adjunct
in
the
molecular
diagnosis
of
junctional
epidermolysis
bullosa
or
congenital
recessive
ichthyosis
in
inbred
populations
.
This
study
emphasizes
the
usefulness
in
human
genetics
of
diagnostic
strategies
tailored
to
the
demographic
features
of
target
populations
.
