Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
A new mutation in the TBX5 gene in Holt-Oram syndrome: two cases in the same family and prenatal diagnosis.
[holt-oram syndrome]
Holt
-
Oram
Syndrome
(
HOS
)
is
a
rare
autosomal
dominant
condition
characterized
by
anomalies
of
the
upper
extremity
and
cardiac
malformations
.
Mutations
in
the
TBX
5
gene
are
what
cause
HOS
.
The
proband
is
an
8
-
year
-old
male
who
presented
with
upper
-extremity
abnormalities
and
a
chest
deformity
.
He
was
born
to
a
nonconsanguineous
marriage
at
full
term
.
He
has
a
history
of
ventricular
septal
defect
.
His
mother
presented
with
deformation
in
both
hands
and
forearms
,
and
was
9
weeks
'
pregnant
.
Mutation
analysis
for
TBX
5
gene
revealed
heterozygous
p
.
L
65
Qfs
*
10
in
both
the
patient
and
his
mother
.
Molecular
analysis
of
the
fetus
was
normal
for
TBX
5
gene
in
the
13
th
week
of
pregnancy
.
In
conclusion
,
our
case
supports
the
fact
that
the
HOS
presents
differently
,
case
by
case
,
even
within
the
same
family
.
The
novel
mutation
reported
here
and
phenotypic
findings
in
the
affected
members
may
contribute
to
the
phenotype-genotype
correlation
.
Diseases
Validation
Diseases presenting
"ventricular septal defect"
symptom
22q11.2 deletion syndrome
cohen syndrome
cowden syndrome
holt-oram syndrome
homocystinuria without methylmalonic aciduria
wolf-hirschhorn syndrome
This symptom has already been validated