Rare Diseases Symptoms Automatic Extraction
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[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
.
