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Clinical and genetic characterization of a Chinese patient with triple A syndrome and novel compound heterozygous mutations in the AAAS gene.
[triple a syndrome]
Triple
A
syndrome
is
a
rare
autosomal
recessive
disease
characterized
by
adrenal
failure
,
alacrima
,
achalasia
,
and
progressive
neurologic
symptoms
.
Here
,
we
describe
the
clinical
and
genetic
characteristics
in
a
Chinese
patient
with
novel
mutations
in
the
AAAS
gene
.
T
he
clinical
and
radiologic
characteristics
of
the
patient
have
been
fully
described
.
The
coding
sequences
,
including
exon-intron
boundaries
,
were
amplified
from
genomic
DNA
and
were
sequenced
.
The
clinical
and
radiologic
findings
of
the
patient
are
fully
described
.
The
sequencing
of
the
AAAS
gene
detected
two
novel
heterozygous
mutations
,
including
a
c
.
577
C
>
T
,
p
.
Gln
193
X
in
exon
7
and
a
novel
frameshift
mutation
c
.
1062
_
1063
insAC
,
p
.
Ser
355
fsX
416
in
exon
11
.
The
testing
of
parents
confirmed
their
heterozygous
carrier
status
.
There
are
significant
clinical
variability
and
mutational
heterogeneities
in
Asian
patients
with
this
syndrome
.
DNA
analysis
is
very
helpful
in
establishing
the
final
diagnosis
of
triple
A
syndrome
,
although
its
implication
in
the
prediction
of
clinical
expression
and
the
outcome
of
the
disorder
is
limited
.
Diseases
Validation
Diseases presenting
"adrenal failure"
symptom
adrenomyeloneuropathy
neonatal adrenoleukodystrophy
scrub typhus
triple a syndrome
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