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[Holt-Oram syndrome: study of 7 cases].
[holt-oram syndrome]
FUNDAMENTAL
AND
OBJECTIVE
:
Holt-
Oram
syndrome
(
HOS
)
is
a
heart
-
hand
disease
with
an
autosomal
dominant
inheritance
pattern
.
About
85
%
of
the
affected
patients
present
de
novo
mutations
in
the
TBX
5
gene
.
The
aim
of
this
study
is
to
propose
a
molecular
strategy
to
diagnose
patients
with
clinical
suspicion
of
HOS
.
A
sequence
analysis
of
7
patients
from
exon
2
to
exon
8
of
the
TBX
5
gene
was
performed
.
MLPAp
179
and
MLPAp
180
were
performed
in
those
cases
in
which
no
mutation
was
found
.
p
.
A
rg
270
X
and
p
.
Ala
34
Glyfsx
27
mutations
were
identified
in
2
cases
.
These
cases
fulfilled
the
strict
clinical
criteria
,
had
a
family
history
of
HOS
and
had
similar
clinical
features
.
In
other
three
cases
,
MLPA
results
showed
deletions
of
the
GLI
3
coding
region
.
In
order
to
increase
the
TBX
5
mutation
detection
rate
,
an
exhaustive
physical
examination
focused
on
the
strict
clinical
criteria
may
be
necessary
to
rule
out
clinical
overlapping
syndromes
.
We
propose
that
molecular
analysis
of
GLI
3
may
be
performed
in
patients
with
clinical
suspicion
of
HOS
without
mutations
in
TBX
5
.