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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 genetic diagnoses"
symptom
oculocutaneous albinism
severe combined immunodeficiency
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