Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
A novel TBX5 missense mutation (V263M) in a family with atrial septal defects and postaxial hexodactyly.
[holt-oram syndrome]
Congenital
heart
diseases
are
the
most
frequent
birth
defects
and
are
commonly
associated
with
skeletal
malformations
.
Mutations
in
the
TBX
5
gene
,
a
T
-
box
transcription
factor
located
on
chromosome
12
q
24
.
1
,
have
been
demonstrated
to
be
the
underlying
molecular
alteration
in
individuals
with
different
congenital
cardiac
disorders
,
notably
the
Holt-
Oram
syndrome
.
Six
members
from
a
two
-generation
family
from
a
consanguineous
couple
,
which
had
atrial
septal
defects
associated
with
postaxial
hexodactyly
in
all
extremities
were
clinically
assessed
and
submitted
to
TBX
5
mutational
analysis
performed
by
direct
sequencing
.
We
detected
a
new
TBX
5
missense
mutation
(
V
26
3
M
)
in
all
four
individuals
studied
with
cardiac
abnormalities
.
The
genotype-phenotype
correlations
in
light
of
unusual
features
are
extensively
discussed
,
as
well
as
the
possible
significance
of
these
atypical
findings
.
These
new
data
extend
our
clinical
and
molecular
knowledge
of
TBX
5
gene
mutations
and
also
raise
interesting
questions
about
the
phenotype
heterogeneity
regarding
these
gene
alterations
.
Diseases
Validation
Diseases presenting
"cardiac abnormalities"
symptom
22q11.2 deletion syndrome
holt-oram syndrome
hydrocephalus with stenosis of the aqueduct of sylvius
inclusion body myositis
kabuki syndrome
monosomy 21
pyruvate dehydrogenase deficiency
wiskott-aldrich syndrome
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom