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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
"intellectual disability"
symptom
22q11.2 deletion syndrome
alexander disease
alpha-thalassemia
aniridia
child syndrome
cohen syndrome
cowden syndrome
hirschsprung disease
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
kabuki syndrome
kallmann syndrome
monosomy 21
oculocutaneous albinism
oligodontia
phenylketonuria
proteus syndrome
triple a syndrome
wolf-hirschhorn syndrome
This symptom has already been validated