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A founder mutation in the PEX6 gene is responsible for increased incidence of Zellweger syndrome in a French Canadian population.
[zellweger syndrome]
Zellweger
syndrome
(
ZS
)
is
a
peroxisome
biogenesis
disorder
due
to
mutations
in
any
one
of
13
PEX
genes
.
Increased
incidence
of
ZS
has
been
suspected
in
French
-
Canadians
of
the
Saguenay-
Lac-
St
-
Jean
region
(
SLSJ
)
of
Quebec
,
but
this
remains
unsolved
.
We
identified
5
ZS
patients
from
SLSJ
diagnosed
by
peroxisome
dysfunction
between
1990
-
2010
and
sequenced
all
coding
exons
of
known
PEX
genes
in
one
patient
using
Next
Generation
Sequencing
(
NGS
)
for
diagnostic
confirmation
.
A
homozygous
mutation
(
c
.
802
_
815
del
,
p
.
[
Val
207
_
Gln
294
del
,
Val
76
_
Gln
294
del
]
)
in
PEX
6
was
identified
and
then
shown
in
4
other
patients
.
Parental
heterozygosity
was
confirmed
in
all
.
Incidence
of
ZS
was
estimated
to
1
in
12
,
191
live
births
,
with
a
carrier
frequency
of
1
in
55
.
In
addition
,
we
present
data
suggesting
that
this
mutation
abolishes
a
SF
2
/
ASF
splice
enhancer
binding
site
,
resulting
in
the
use
of
two
alternative
cryptic
donor
splice
sites
and
predicted
to
encode
an
internally
deleted
in
-frame
protein
.
We
report
increased
incidence
of
ZS
in
French
-
Canadians
of
SLSJ
caused
by
a
PEX
6
founder
mutation
.
To
our
knowledge
,
this
is
the
highest
reported
incidence
of
ZS
worldwide
.
These
findings
have
implications
for
carrier
screening
and
support
the
utility
of
NGS
for
molecular
confirmation
of
peroxisomal
disorders
.
Diseases
Validation
Diseases presenting
"internally deleted in-frame protein"
symptom
zellweger syndrome
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