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A Novel ABCA12 Mutation in Two Families with Congenital Ichthyosis.
[harlequin ichthyosis]
Autosomal
recessive
congenital
ichthyosis
(
ARCI
)
is
a
rare
genetically
heterogeneous
disorder
characterized
by
hyperkeratosis
in
addition
to
dry
,
scaly
skin
.
There
are
six
genes
currently
known
to
be
associated
with
the
disease
.
Exome
sequencing
data
for
two
affected
individuals
with
ichthyosis
from
two
apparently
unrelated
consanguineous
Pakistani
families
was
analysed
.
Potential
candidate
mutations
were
analysed
in
additional
family
members
to
determine
if
the
putative
mutation
segregated
with
disease
status
.
A
novel
mutation
(
c
.
G
4676
T
,
p
.
Gly
1559
Val
)
in
ABCA
12
occurred
at
a
highly
conserved
residue
,
segregated
with
disease
status
in
both
families
,
and
was
not
detected
in
143
control
chromosomes
.
Genotyping
with
microsatellite
markers
demonstrated
a
partial
common
haplotype
in
the
two
families
,
and
a
common
founder
mutation
could
not
be
excluded
.
Comparison
to
previously
reported
cases
was
consistent
with
the
hypothesis
that
severe
loss
of
function
ABCA
12
mutations
are
associated
with
Harlequin
Ichthyosis
and
missense
mutations
are
preferentially
associated
with
milder
phenotypes
.
In
addition
to
identifying
a
possible
founder
mutation
,
this
paper
illustrates
how
advances
in
genome
sequencing
technologies
could
be
utilised
to
rapidly
elucidate
the
molecular
basis
of
inherited
skin
diseases
which
can
be
caused
by
mutations
in
multiple
disease
genes
.