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A spontaneous Fatp4/Scl27a4 splice site mutation in a new murine model for congenital ichthyosis.
[lamellar ichthyosis]
Congenital
ichthyoses
are
life-threatening
conditions
in
humans
.
We
describe
here
the
identification
and
molecular
characterization
of
a
novel
recessive
mutation
in
mice
that
results
in
newborn
lethality
with
severe
congenital
lamellar
ichthyosis
.
Mutant
newborns
have
a
taut
,
shiny
,
non-expandable
epidermis
that
resembles
cornified
manifestations
of
autosomal-recessive
congenital
ichthyosis
in
humans
.
The
skin
is
stretched
so
tightly
that
the
newborn
mice
are
immobilized
.
The
genetic
defect
was
mapped
to
a
region
near
the
proximal
end
of
chromosome
2
by
SNP
analysis
,
suggesting
Fatp
4
/
Slc
27
a
4
as
a
candidate
gene
.
FATP
4
mutations
in
humans
cause
ichthyosis
prematurity
syndrome
(
IPS
)
,
and
mutations
of
Fatp
4
in
mice
have
previously
been
found
to
cause
a
phenotype
that
resembles
human
congenital
ichthyoses
.
Characterization
of
the
Fatp
4
cDNA
revealed
a
fusion
of
exon
8
to
exon
10
,
with
deletion
of
exon
9
.
Genomic
sequencing
identified
an
A
to
T
mutation
in
the
splice
donor
sequence
at
the
3
'
-
end
of
exon
9
.
Loss
of
exon
9
results
in
a
frame
shift
mutation
upstream
from
the
conserved
very
long
-chain
acyl-
CoA
synthase
(
VLACS
)
domain
.
Histological
studies
revealed
that
the
mutant
mice
have
defects
in
keratinocyte
differentiation
,
along
with
hyperproliferation
of
the
stratum
basale
of
the
epidermis
,
a
hyperkeratotic
stratum
corneum
,
and
reduced
numbers
of
secondary
hair
follicles
.
Since
Fatp
4
protein
is
present
primarily
at
the
stratum
granulosum
and
the
stratum
spinosum
,
the
hyperproliferation
and
the
alterations
in
hair
follicle
induction
suggest
that
very
long
chain
fatty
acids
,
in
addition
to
being
required
for
normal
cornification
,
may
influence
signals
from
the
stratum
corneum
to
the
basal
cells
that
help
to
orchestrate
normal
skin
differentiation
.
Diseases
Validation
Diseases presenting
"very long-chain acyl-coa"
symptom
aniridia
lamellar ichthyosis
x-linked adrenoleukodystrophy
zellweger syndrome
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