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A deleterious mutation in the PEX2 gene causes Zellweger syndrome in individuals of Ashkenazi Jewish descent.
[zellweger syndrome]
Zellweger
syndrome
is
known
to
be
caused
by
numerous
mutations
that
occur
in
at
least
12
of
the
PEX
genes
.
While
phenotypes
vary
,
many
are
severely
debilitating
,
and
death
can
result
in
affected
newborns
.
Since
the
disease
follows
an
autosomal
recessive
pattern
of
inheritance
,
carrier
screening
can
be
done
for
at
-risk
couples
,
but
the
number
of
potential
mutations
sites
to
screen
can
be
daunting
.
Ethnicity-
specific
studies
can
help
narrow
this
range
by
highlighting
mutations
that
are
present
at
higher
percentages
in
certain
populations
.
In
this
article
,
the
carrier
frequencies
for
two
mutations
causative
of
the
severe
Zellweger
syndrome
spectrum
phenotype
that
occur
in
the
PEX
2
gene
,
c
.
355
C
>
T
and
c
.
550
del
,
were
studied
in
individuals
of
Ashkenazi
Jewish
descent
in
order
to
advise
on
inclusion
in
existing
carrier
screening
mutation
panels
for
this
population
.
The
screening
was
performed
for
2093
individuals
through
the
use
of
TaqMan
genotyping
assays
,
real-time
PCR
,
and
allelic
discrimination
.
Results
indicated
a
carrier
frequency
of
0
.
813
%
(
±
0
.
385
%
)
for
the
c
.
355
C
>
T
mutation
and
a
carrier
frequency
of
0
.
00
%
(
±
0
.
00
%
)
for
the
c
.
550
del
mutation
.
On
the
basis
of
these
frequencies
,
we
believe
that
the
c
.
355
C
>
T
mutation
should
be
considered
for
inclusion
in
carrier
screening
panels
for
the
Ashkenazi
population
.
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Diseases presenting
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symptom
zellweger syndrome
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