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The Frequency and the Effects of 21-Hydroxylase Gene Defects in Congenital Adrenal Hyperplasia Patients.
[congenital adrenal hyperplasia]
Congenital
adrenal
hyperplasia
(
CAH
)
is
a
group
of
genetic
endocrine
disorders
,
caused
by
enzyme
deficiencies
in
the
conversion
of
cholesterol
to
cortisol
.
More
than
90
%
of
the
cases
have
21
-
hydroxylase
deficiency
(
21
-
OHD
)
.
The
clinical
phenotype
of
the
disease
is
classified
as
classic
,
the
severe
form
,
and
nonclassic
,
the
mild
form
.
In
this
study
,
it
was
planned
to
characterize
the
mutations
that
cause
21
-
OHD
in
Turkish
CAH
patients
by
direct
sequencing
and
multiplex
ligation-dependent
probe
amplification
(
MLPA
)
analysis
and
to
investigate
the
type
of
CAH
(
classic
or
nonclassic
type
)
that
these
mutations
cause
.
A
total
of
124
CAH
patients
with
21
-
OHD
and
100
healthy
volunteers
were
recruited
to
the
study
.
Most
of
the
mutations
were
detected
by
direct
sequencing
.
Large
gene
deletions
/
duplications
/
conversions
were
investigated
with
MLPA
analysis
.
Results
were
evaluated
statistically
.
At
the
end
of
our
study
,
66
different
variations
were
detected
including
SNPs
and
deletions
/
duplications
/
conversions
.
Of
these
variations
,
18
are
novel
,
of
which
three
cause
amino
acid
substitutions
.
In
addition
,
15
SNPs
which
cause
amino
acid
changes
were
identified
among
these
variations
.
If
similar
results
are
obtained
in
different
populations
,
these
mutations
,
in
particular
the
novel
mutation
711
G
>
A
,
may
be
used
as
markers
for
prenatal
diagnosis
.
Diseases
Validation
Diseases presenting
"severe form"
symptom
alpha-thalassemia
benign recurrent intrahepatic cholestasis
canavan disease
child syndrome
congenital adrenal hyperplasia
dentinogenesis imperfecta
dystrophic epidermolysis bullosa
fabry disease
familial hypocalciuric hypercalcemia
familial mediterranean fever
harlequin ichthyosis
heparin-induced thrombocytopenia
hirschsprung disease
inclusion body myositis
kindler syndrome
lamellar ichthyosis
legionellosis
locked-in syndrome
megacystis-microcolon-intestinal hypoperistalsis syndrome
neonatal adrenoleukodystrophy
neuralgic amyotrophy
papillon-lefèvre syndrome
zellweger syndrome
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