Rare Diseases Symptoms Automatic Extraction
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A random Abstract
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Our Team
[Mutation analysis for a Chinese family featuring X-linked alpha thalassemia/mental retardation syndrome].
[alpha-thalassemia]
To
identify
potential
mutation
in
a
Chinese
family
featuring
X-
linked
alpha
thalassemia
/
mental
retardation
syndrome
(
ATR
-X
)
.
Based
on
clinical
symptoms
and
inheritance
pattern
,
linkage
analysis
of
X
chromosome
short
tandem
repeats
(
X-STR
)
loci
was
carried
out
to
locate
the
candidate
gene
.
Subsequently
,
sequences
of
exons
and
exon-intron
boundaries
of
the
candidate
gene
were
amplified
with
polymerase
chain
reaction
(
PCR
)
.
Potential
mutations
were
detected
by
direct
DNA
sequencing
.
All
patients
were
also
analyzed
for
the
trait
of
thalassemia
.
Linkage
analysis
indicated
the
candidate
gene
to
be
ATRX
.
Subsequently
,
a
homozygous
missense
mutation
c
.
736
C
>
T
(
p
.
R
246
C
)
was
found
in
exon
9
of
ATRX
in
all
of
the
3
patients
.
And
a
heterozygous
mutation
c
.
736
C
>
T
(
p
.
R
246
C
)
was
also
identified
in
the
patient
's
mother
and
grandmother
.
Similar
mutations
were
not
detected
in
other
members
of
the
family
.
Alpha
thalassemia
was
detected
in
the
proband
and
another
patient
,
whose
genotypes
were
determined
as
-
α
(
3
.
7
)
/
αα
and
-
-
(
sea
)
/
αα
,
respectively
.
Missense
mutation
of
c
.
736
C
>
T
in
ATRX
gene
is
a
mutation
hotspot
,
and
p
.
R
246
C
may
disturb
the
function
of
ATRX
-DNMT
3
-
DNMT
3
L
domain
(
ADD
)
,
which
may
be
responsible
for
the
disease
in
this
family
.
Diseases
Validation
Diseases presenting
"mental retardation"
symptom
achondroplasia
alexander disease
alpha-thalassemia
aniridia
aromatase deficiency
canavan disease
classical phenylketonuria
coats disease
cohen syndrome
cowden syndrome
cystinuria
dentin dysplasia
familial hypocalciuric hypercalcemia
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
kabuki syndrome
kallmann syndrome
lamellar ichthyosis
lymphangioleiomyomatosis
monosomy 21
phenylketonuria
primary hyperoxaluria type 1
proteus syndrome
pyruvate dehydrogenase deficiency
sneddon syndrome
triple a syndrome
wolf-hirschhorn syndrome
zellweger syndrome
This symptom has already been validated