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Mutation spectra of the AAAS gene in Iranian families with Allgrove Syndrome.
[triple a syndrome]
Allgrove
(
OMIM
#
231550
)
or
Triple-
A
syndrome
is
a
rare
,
autosomal
recessive
disorder
characterized
by
the
triad
of
familial
adrenal
insufficiency
,
achalasia
,
and
alacrima
.
Approximately
one
-
half
of
all
patients
with
Triple-
A
syndrome
have
been
shown
to
have
mutations
in
the
AAAS
gene
on
chromosome
12
q
13
,
which
results
in
loss
or
non-function
of
the
encoded
protein
.
Five
unrelated
families
clinically
diagnosed
with
Allgrove
Syndrome
were
evaluated
for
sequence
variations
in
the
AAAS
gene
.
Blood
samples
were
collected
after
informed
and
written
consent
was
obtained
.
Isolated
DNA
derived
from
subjects
was
amplified
using
intronic
primers
.
The
entire
sequence
of
the
AAAS
gene
including
regulatory
region
,
coding
regions
and
exon-intron
boundaries
were
analyzed
for
any
alteration
by
PCR
and
direct
sequencing
.
In
six
probands
of
five
families
,
four
previously
reported
and
two
novel
mutations
were
identified
.
Two
heterozygote
and
homozygote
mutations
in
exon
9
and
the
regulatory
region
,
respectively
,
were
detected
in
one
of
the
probands
.
T
his
is
the
first
report
of
Triple-
A
syndrome
from
an
Iranian
population
.
Collectively
,
our
study
findings
indicate
that
mutations
scattered
across
the
AAAS
gene
and
upstream
regulation
elements
.
Various
ethnic
groups
should
develop
a
mutation
database
for
their
own
rare
genetic
disorders
.
However
,
mutation
databases
should
initially
screen
common
mutated
alleles
.
Our
families
present
the
typical
triad
of
symptoms
and
the
mutation
spectrum
is
similar
to
the
other
population
studied
.
Further
study
is
required
for
phenotype-genotype
correlation
in
the
Iranian
population
.
Diseases
Validation
Diseases presenting
"upstream regulation elements"
symptom
triple a syndrome
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