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A novel mutation in SOX3 polyalanine tract: a case of kabuki syndrome with combined pituitary hormone deficiency harboring double mutations in MLL2 and SOX3.
[kabuki syndrome]
Both
duplications
encompassing
SOX
3
and
loss
-of
function
mutations
in
SOX
3
have
been
reported
in
a
minor
portion
of
X-
linked
isolated
growth
hormone
deficiency
(
GHD
)
or
combined
pituitary
hormone
deficiency
(
CPHD
)
patients
with
or
without
mental
retardation
.
We
report
a
Japanese
male
patient
with
molecularly
confirmed
Kabuki
syndrome
who
was
found
to
have
CPHD
.
We
analyzed
all
coding
exons
and
flanking
introns
of
currently
known
nine
genes
responsible
for
CPHD
by
PCR-based
sequencing
.
In
this
CPHD
patient
,
we
identified
a
novel
hemizygous
21
-
base
pair
deletion
,
resulting
in
the
loss
of
7
alanine
residues
from
polyalanine
(
PA
)
tracts
of
SOX
3
.
The
clinically
and
endocrinologically
normal
mother
of
the
patient
carried
the
same
deletion
in
a
heterozygous
manner
.
In
vitro
experiments
showed
that
the
del
7
A
SOX
3
had
increased
transactivation
of
the
HESX
1
promoter
.
O
ur
study
provides
additional
evidence
that
deletion
in
PA
tracts
of
SOX
3
is
associated
with
hypopituitarism
.
Female
carriers
of
SOX
3
PA
tract
deletions
will
show
a
broad
phenotypic
spectrum
,
ranging
from
clinically
normal
to
CPHD
.
Diseases
Validation
Diseases presenting
"japanese male patient"
symptom
kabuki syndrome
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