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A random Abstract
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The human TBX5 gene mutation database.
[holt-oram syndrome]
Germline
mutations
of
the
TBX
5
gene
were
identified
as
the
primary
cause
in
up
to
70
%
of
patients
with
Holt-
Oram
syndrome
(
HOS
)
,
an
autosomal
dominant
disorder
characterized
by
malformations
of
the
upper
limbs
and
cardiac
defects
.
Furthermore
,
somatic
mutations
of
the
TBX
5
gene
have
been
described
in
diseased
heart
tissues
of
patients
with
congenital
heart
defects
of
different
cause
.
The
relationship
between
genotype
and
phenotype
remains
unclear
and
the
underlying
mechanism
of
the
pathogenic
effect
is
not
solved
.
In
this
report
,
we
introduce
the
'
TBX
5
Gene
Mutation
Database
,
'
an
online
locus
specific
database
containing
germline
and
somatic
mutations
of
the
TBX
5
gene
.
The
permanently
updated
data
collection
includes
all
reported
mutations
beginning
with
the
first
description
of
the
gene
in
1997
.
With
our
database
we
complement
the
existing
resources
by
:
1
)
giving
a
complete
review
of
the
so
far
reported
mutation
spectrum
in
TBX
5
considering
the
clinical
relevance
;
2
)
linkage
of
the
mutational
data
to
the
corresponding
gene
location
and
PubMed-Abstracts
;
and
3
)
additional
links
to
other
related
resources
like
SNP
database
,
sequences
and
literature
references
.
The
usage
of
our
database
will
help
to
quickly
find
informations
about
genetic
variations
within
the
TBX
5
gene
.
Here
we
describe
the
database
structure
,
content
,
and
potential
applications
(
http
:
/
/
www
.
uni-
leipzig
.
de
/
~
genetik
/
TBX
5
)
.
