Rare Diseases Symptoms Automatic Extraction
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A random Abstract
Our Project
Our Team
[Mutation analyses and prenatal diagnosis in two families of X linked severe combined immunodeficiency caused by IL2RG gene novel mutation].
[severe combined immunodeficiency]
To
evaluate
the
diagnostic
feasibility
of
mutation
analysis
and
prenatal
genetic
diagnosis
genetic
analysis
of
IL
2
RG
gene
in
two
families
with
a
birth
history
of
X-
linked
severe
combined
immunodeficiency
(
X-
SCID
)
.
Blood
samples
of
a
male
infant
patient
of
X-
SCID
and
his
mother
in
family
1
and
the
parents
of
another
deceased
child
with
X-
SCID
in
family
2
from
January
2012
to
February
2013
were
collected
.
Eight
exons
comprising
IL
2
RG
open
reading
frame
and
their
exon
/
intron
boundaries
were
analyzed
by
bi
-directional
direct
sequencing
of
polymerase
chain
reaction
(
PCR
)
products
.
Prenatal
genetic
diagnoses
were
performed
by
chorionic
villus
sampling
after
the
genotypes
of
maternal
probands
were
identified
in
family
1
.
Two
mutations
of
IL
2
RG
gene
were
identified
in
these
two
families
.
The
c
.
361
-
363
delGAG
(
p
.
E
121
del
)
mutation
was
identified
in
family
1
.
The
c
.
510
-
511
insGAACT
(
p
.
W
173
X
)
mutation
appeared
in
family
2
.
The
two
mutations
of
c
.
361
-
363
delGAG
(
p
.
E
121
del
)
and
c
.
510
-
511
insGAACT
(
p
.
W
173
X
)
were
novel
.
The
two
novel
mutations
were
absent
in
100
normal
controls
.
The
pregnancy
in
family
1
continued
and
the
infant
showed
no
symptom
of
X-
SCID
at
1
year
after
birth
.
The
aunt
(
II
-
3
)
of
proband
in
family
1
was
not
a
carrier
.
The
female
fetus
in
family
1
had
no
mutation
.
Two
novel
mutations
of
c
.
361
-
363
delGAG
(
p
.
E
121
del
)
and
c
.
510
-
511
insGAACT
(
p
.
W
173
X
)
in
IL
2
RG
gene
may
be
a
major
cause
of
disease
in
two
families
with
X-
SCID
.
And
direct
sequencing
of
IL
2
RG
gene
provides
genetic
counseling
,
prenatal
diagnosis
and
carrier
screening
for
families
with
X-
SCID
.
Diseases
Validation
Diseases presenting
"prenatal diagnosis"
symptom
22q11.2 deletion syndrome
achondroplasia
adrenomyeloneuropathy
alexander disease
alpha-thalassemia
aromatase deficiency
benign recurrent intrahepatic cholestasis
cadasil
canavan disease
classical phenylketonuria
cohen syndrome
congenital adrenal hyperplasia
congenital diaphragmatic hernia
congenital toxoplasmosis
cystinuria
dentinogenesis imperfecta
epidermolysis bullosa simplex
harlequin ichthyosis
holt-oram syndrome
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
junctional epidermolysis bullosa
kindler syndrome
krabbe disease
lamellar ichthyosis
megacystis-microcolon-intestinal hypoperistalsis syndrome
monosomy 21
neonatal adrenoleukodystrophy
oculocutaneous albinism
omenn syndrome
phenylketonuria
primary hyperoxaluria type 1
pyruvate dehydrogenase deficiency
severe combined immunodeficiency
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
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