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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
"heart disease"
symptom
22q11.2 deletion syndrome
achondroplasia
acute rheumatic fever
adrenal incidentaloma
child syndrome
classical phenylketonuria
cohen syndrome
congenital diaphragmatic hernia
dentinogenesis imperfecta
esophageal adenocarcinoma
fabry disease
familial mediterranean fever
heparin-induced thrombocytopenia
hirschsprung disease
holt-oram syndrome
homocystinuria without methylmalonic aciduria
kabuki syndrome
monosomy 21
omenn syndrome
phenylketonuria
sneddon syndrome
systemic capillary leak syndrome
wiskott-aldrich syndrome
wolf-hirschhorn syndrome
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