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Intragenic duplication-A novel causative mechanism for SATB2-associated syndrome.
[oligodontia]
Previous
studies
have
shown
that
genetic
aberrations
involving
the
special
AT-rich
sequence-binding
protein
2
(
SATB
2
)
gene
result
in
a
variable
phenotype
of
syndromic
intellectual
disability
.
Although
only
a
small
number
of
patients
have
been
described
,
there
is
already
considerable
variation
in
regard
to
the
underlying
molecular
mechanism
spanning
from
structural
variation
to
point
mutations
.
We
here
describe
a
male
patient
with
intellectual
disability
,
speech
and
language
impairment
,
cleft
palate
,
malformed
teeth
,
and
oligodontia
.
Array
CGH
analysis
identified
a
small
intragenic
duplication
in
the
SATB
2
gene
that
included
three
coding
exons
.
The
result
was
confirmed
by
multiplex
ligation-dependent
probe
amplification
and
low
coverage
whole
genome
mate
pair
sequencing
.
WGS
breakpoint
analysis
directly
confirmed
the
duplication
as
intragenic
.
This
is
the
first
reported
patient
with
an
intragenic
duplication
in
SATB
2
in
combination
with
a
phenotype
that
is
highly
similar
to
previously
described
patients
with
small
deletions
or
point
mutations
of
the
same
gene
.
Our
findings
expand
the
spectra
of
SATB
2
mutations
and
confirm
the
presence
of
a
distinct
SATB
2
-
phenotype
with
severe
ID
and
speech
impairment
,
cleft
palate
and
/
or
high
arched
palate
,
and
abnormalities
of
the
teeth
.
For
patients
that
present
with
this
clinical
picture
,
a
high
-resolution
exon
targeted
array
CGH
and
/
or
WGS
,
in
addition
to
sequencing
of
SATB
2
,
should
be
considered
.
©
2014
Wiley
Periodicals
,
Inc
.
Diseases
Validation
Diseases presenting
"high arched palate"
symptom
monosomy 21
oligodontia
proteus syndrome
This symptom has already been validated