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Waardenburg syndrome type 4: report of two new cases caused by SOX10 mutations in Spain.
[hirschsprung disease]
Shah-
Waardenburg
syndrome
or
Waardenburg
syndrome
type
4
(
WS
4
)
is
a
neurocristopathy
characterized
by
the
association
of
deafness
,
depigmentation
and
Hirschsprung
disease
.
Three
disease-causing
genes
have
been
identified
so
far
for
WS
4
:
EDNRB
,
EDN
3
,
and
SOX
10
.
SOX
10
mutations
,
found
in
45
-
55
%
of
WS
4
patients
,
are
inherited
in
autosomal
dominant
way
.
In
addition
,
mutations
in
SOX
10
are
also
responsible
for
an
extended
syndrome
involving
peripheral
and
central
neurological
phenotypes
,
referred
to
as
PCWH
(
peripheral
demyelinating
neuropathy
,
central
dysmyelinating
leucodystrophy
,
Waardenburg
syndrome
,
Hirschsprung
disease
)
.
Such
mutations
are
mostly
private
,
and
a
high
intra-
and
inter-familial
variability
exists
.
In
this
report
,
we
present
a
patient
with
WS
4
and
a
second
with
PCWH
due
to
SOX
10
mutations
supporting
again
the
genetic
and
phenotypic
heterogeneity
of
these
syndromes
.
Interestingly
,
the
WS
4
family
carries
an
insertion
of
19
nucleotides
in
exon
5
of
SOX
10
,
which
results
in
distinct
phenotypes
along
three
different
generations
:
hypopigmentation
in
the
maternal
grandmother
,
hearing
loss
in
the
mother
,
and
WS
4
in
the
proband
.
Since
mosaicism
can
not
explain
the
three
different
related-
WS
features
observed
in
this
family
,
we
propose
as
the
most
plausible
explanation
the
existence
of
additional
molecular
events
,
acting
in
an
additive
or
multiplicative
fashion
,
in
genes
or
regulatory
regions
unidentified
so
far
.
On
the
other
hand
,
the
PCWH
case
was
due
to
a
de
novo
deletion
in
exon
5
of
the
gene
.
Efforts
should
be
devoted
to
unravel
the
mechanisms
underlying
the
intrafamilial
phenotypic
variability
observed
in
the
families
affected
,
and
to
identify
new
genes
responsible
for
the
still
unsolved
WS
4
cases
.
Diseases
Validation
Diseases presenting
"high intra"
symptom
epidermolysis bullosa simplex
hirschsprung disease
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