Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans.
[lamellar ichthyosis]
Ichthyoses
comprise
a
heterogeneous
group
of
genodermatoses
characterized
by
abnormal
desquamation
over
the
whole
body
,
for
which
the
genetic
causes
of
several
human
forms
remain
unknown
.
We
used
a
spontaneous
dog
model
in
the
golden
retriever
breed
,
which
is
affected
by
a
lamellar
ichthyosis
resembling
human
autosomal
recessive
congenital
ichthyoses
(
ARCI
)
,
to
carry
out
a
genome-
wide
association
study
.
We
identified
a
homozygous
insertion-deletion
(
indel
)
mutation
in
PNPLA
1
that
leads
to
a
premature
stop
codon
in
all
affected
golden
retriever
dogs
.
We
subsequently
found
one
missense
and
one
nonsense
mutation
in
the
catalytic
domain
of
human
PNPLA
1
in
six
individuals
with
ARCI
from
two
families
.
Further
experiments
highlighted
the
importance
of
PNPLA
1
in
the
formation
of
the
epidermal
lipid
barrier
.
This
study
identifies
a
new
gene
involved
in
human
ichthyoses
and
provides
insights
into
the
localization
and
function
of
this
yet
uncharacterized
member
of
the
PNPLA
protein
family
.