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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
.
Diseases
Validation
Diseases presenting
"premature stop codon"
symptom
aromatase deficiency
cadasil
classical phenylketonuria
cohen syndrome
cystinuria
dystrophic epidermolysis bullosa
erythropoietic protoporphyria
familial hypocalciuric hypercalcemia
junctional epidermolysis bullosa
kindler syndrome
lamellar ichthyosis
omenn syndrome
triple a syndrome
x-linked adrenoleukodystrophy
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