Rare Diseases Symptoms Automatic Extraction
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Zellweger syndrome resulting from maternal isodisomy of chromosome 1.
[zellweger syndrome]
Zellweger
syndrome
(
ZS
)
is
an
autosomal
recessive
peroxisomal
disorder
that
results
from
mutations
in
one
of
the
peroxisome
biogenesis
(
PEX
)
genes
.
This
is
the
first
patient
reported
with
uniparental
disomy
(
UPD
)
resulting
in
ZS
,
in
this
case
maternal
isodisomy
of
chromosome
1
involving
reduction
to
homoallelism
of
a
frameshift
mutation
within
PEX
10
.
Other
reported
cases
of
UPD
1
,
and
evidence
for
the
imprinting
of
genes
on
chromosome
1
,
are
reviewed
.
The
molecular
findings
in
this
patient
have
important
implications
for
molecular
testing
and
genetic
counseling
in
ZS
.
