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Xq26.3 microdeletion in a male with Wildervanck Syndrome.
[holt-oram syndrome]
Wildervanck
Syndrome
(
WS
;
cervico-oculo-acoustic
syndrome
)
consists
of
Duane
retraction
syndrome
(
DRS
)
,
the
Klippel-
Feil
anomaly
,
and
congenital
deafness
.
It
is
much
more
common
in
females
than
males
and
could
be
due
to
an
X-
linked
mutation
that
is
lethal
to
hemizygous
males
.
We
present
the
genetic
evaluation
of
a
male
with
WS
and
his
family
.
Clinical
evaluation
and
neuroimaging
,
sequencing
of
candidate
genes
,
and
array
comparative
genomic
hybridization
.
The
patient
had
bilateral
type
1
DRS
,
fusion
of
almost
the
entire
cervical
spine
,
and
bilateral
severe
sensorineural
hearing
loss
due
to
bilateral
cochlear
dysplasia
;
he
also
had
congenital
heart
disease
requiring
surgery
.
His
parents
were
unrelated
,
and
he
had
eight
unaffected
siblings
.
The
patient
had
no
mutation
found
by
Sanger
sequencing
of
HOXA
1
,
KIF
21
A
,
SALL
4
,
and
CHN
1
.
He
had
a
3
kB
deletion
in
the
X-
chromosome
at
Xq
26
.
3
that
was
not
found
in
his
mother
,
one
unaffected
sibling
,
or
56
healthy
controls
of
matching
ethnicity
.
This
deletion
encompassed
only
one
gene
,
Fibroblast
Growth
Factor
Homologous
Factor
13
(
FGF
13
)
,
which
encodes
a
216
-
amino
acid
protein
that
acts
intracellularly
in
neurons
throughout
brain
development
.
Analysis
of
this
patient
's
phenotype
and
genotype
open
the
possibility
that
X-
chromosome
deletions
may
be
a
cause
of
WS
with
larger
deletions
being
lethal
to
males
and
that
FGF
13
mutations
may
be
a
cause
of
WS
.
Diseases
Validation
Diseases presenting
"an x-linked mutation that is lethal to hemizygous males"
symptom
holt-oram syndrome
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