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Phenotypic similarities and differences in patients with a p.Met112Ile mutation in SOX10.
[hirschsprung disease]
Waardenburg
syndrome
(
WS
)
is
characterized
by
an
association
of
pigmentation
abnormalities
and
sensorineural
hearing
loss
.
Four
types
,
defined
on
clinical
grounds
,
have
been
delineated
,
but
this
phenotypic
classification
correlates
imperfectly
with
known
molecular
anomalies
.
SOX
10
mutations
have
been
found
in
patients
with
type
II
and
type
IV
WS
(
i
.
e
.
,
with
Hirschsprung
disease
)
,
more
complex
syndromes
,
and
partial
forms
of
the
disease
.
The
phenotype
induced
by
SOX
10
mutations
is
highly
variable
and
,
except
for
the
neurological
forms
of
the
disease
,
no
genotype-phenotype
correlation
has
been
characterized
to
date
.
There
is
no
mutation
hotspot
in
SOX
10
and
most
cases
are
sporadic
,
making
it
particularly
difficult
to
correlate
the
phenotypic
and
genetic
variability
.
This
study
reports
on
three
independent
families
with
SOX
10
mutations
predicted
to
result
in
the
same
missense
mutation
at
the
protein
level
(
p
.
Met
112
Ile
)
,
offering
a
rare
opportunity
to
improve
our
understanding
of
the
mechanisms
underlying
phenotypic
variability
.
The
pigmentation
defects
of
these
patients
are
very
similar
,
and
the
neurological
symptoms
showed
a
somewhat
similar
evolution
over
time
,
indicating
a
potential
partial
genotype-phenotype
correlation
.
However
,
variability
in
gastrointestinal
symptoms
suggests
that
other
genetic
factors
contribute
to
the
expression
of
these
phenotypes
.
No
correlation
between
the
rs
2435357
polymorphism
of
RET
and
the
expression
of
Hirschsprung
disease
was
found
.
In
addition
,
one
of
the
patients
has
esophageal
achalasia
,
which
has
rarely
been
described
in
WS
.
Diseases
Validation
Diseases presenting
"gastrointestinal symptoms"
symptom
alpha-thalassemia
congenital toxoplasmosis
cutaneous mastocytosis
familial mediterranean fever
hirschsprung disease
junctional epidermolysis bullosa
kindler syndrome
malignant atrophic papulosis
systemic capillary leak syndrome
typhoid
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