Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Novel polymorphisms and lack of mutations in the ACD gene in patients with ACTH resistance syndromes.
[triple a syndrome]
ACTH
resistance
is
a
feature
of
several
human
syndromes
with
known
genetic
causes
,
including
familial
glucocorticoid
deficiency
(
types
1
and
2
)
and
triple
A
syndrome
.
However
,
many
patients
with
ACTH
resistance
lack
an
identifiable
genetic
aetiology
.
The
human
homolog
of
the
Acd
gene
,
mutated
in
a
mouse
model
of
adrenal
insufficiency
,
was
sequenced
in
25
patients
with
a
clinical
diagnosis
of
familial
glucocorticoid
deficiency
or
triple
A
syndrome
.
A
3
.
4
kilobase
genomic
fragment
containing
the
entire
ACD
gene
was
analysed
for
mutations
in
all
25
patients
.
Samples
were
obtained
by
three
investigators
from
different
institutions
.
The
primary
cohort
consisted
of
25
unrelated
patients
,
primarily
of
European
or
Middle
Eastern
descent
,
with
a
clinical
diagnosis
of
either
familial
glucocorticoid
deficiency
(
FGD
)
or
triple
A
syndrome
.
Patients
lacked
mutations
in
other
genes
known
to
cause
ACTH
resistance
,
including
AAAS
for
patients
diagnosed
with
triple
A
syndrome
and
MC
2
R
and
MRAP
for
patients
diagnosed
with
familial
glucocorticoid
deficiency
.
Thirty
-
five
additional
patients
with
adrenal
disease
phenotypes
were
added
to
form
an
expanded
cohort
of
60
patients
.
Identification
of
DNA
sequence
changes
in
the
ACD
gene
in
the
primary
cohort
and
analysis
of
putative
ACD
haplotypes
in
the
expanded
cohort
.
No
disease-causing
mutations
were
found
,
but
several
novel
single
nucleotide
polymorphisms
(
SNPs
)
and
two
putative
haplotypes
were
identified
.
The
overall
frequency
of
SNPs
in
ACD
is
low
compared
to
other
gene
families
.
No
mutations
were
identified
in
ACD
in
this
collection
of
patients
with
ACTH
resistance
phenotypes
.
However
,
the
newly
identified
SNPs
in
ACD
should
be
more
closely
examined
for
possible
links
to
disease
.
Diseases
Validation
Diseases presenting
"known genetic causes, including familial glucocorticoid deficiency"
symptom
triple a syndrome
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom