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Discovery in genetic skin disease: the impact of high throughput genetic technologies.
[harlequin ichthyosis]
The
last
decade
has
seen
considerable
advances
in
our
understanding
of
the
genetic
basis
of
skin
disease
,
as
a
consequence
of
high
throughput
sequencing
technologies
including
next
generation
sequencing
and
whole
exome
sequencing
.
We
have
now
determined
the
genes
underlying
several
monogenic
diseases
,
such
as
harlequin
ichthyosis
,
Olmsted
syndrome
,
and
exfoliative
ichthyosis
,
which
have
provided
unique
insights
into
the
structure
and
function
of
the
skin
.
In
addition
,
through
genome
wide
association
studies
we
now
have
an
understanding
of
how
low
penetrance
variants
contribute
to
inflammatory
skin
diseases
such
as
psoriasis
vulgaris
and
atopic
dermatitis
,
and
how
they
contribute
to
underlying
pathophysiological
disease
processes
.
In
this
review
we
discuss
strategies
used
to
unravel
the
genes
underlying
both
monogenic
and
complex
trait
skin
diseases
in
the
last
10
years
and
the
implications
on
mechanistic
studies
,
diagnostics
,
and
therapeutics
.