Rare Diseases Symptoms Automatic Extraction
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A random Abstract
Our Project
Our Team
Mutated nup62 causes autosomal recessive infantile bilateral striatal necrosis.
[triple a syndrome]
The
objective
of
this
study
was
to
identify
the
gene
causing
autosomal
recessive
infantile
bilateral
striatal
necrosis
.
We
have
mapped
the
disease
gene
in
the
candidate
region
to
approximately
230
kb
on
19
q
13
.
33
in
8
interrelated
families
including
a
total
of
12
patients
and
39
unaffected
individuals
.
Sequencing
of
the
nup
62
gene
showed
a
missense
mutation
causing
a
change
from
glutamine
to
proline
(
Q
391
P
)
in
all
the
patients
,
producing
a
substitution
from
a
polar
,
hydrophilic
residue
to
a
nonpolar
,
neutral
residue
.
All
the
other
12
candidate
genes
were
sequenced
,
and
no
pathogenic
sequence
changes
were
found
.
Comparisons
of
p
62
protein
sequences
from
diverse
species
indicate
that
glutamine
at
position
391
is
highly
conserved
.
Five
prenatal
diagnoses
were
performed
in
three
at
-risk
families
.
This
is
the
second
example
of
a
nuclear
pore
complex
protein
causing
mendelian
disease
in
humans
(
the
first
one
is
triple
A
syndrome
)
.
Our
findings
suggest
that
p
62
has
a
cell
type
-
specific
role
and
is
important
in
the
degeneration
of
the
basal
ganglia
in
humans
.
