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A random Abstract
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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
"mental retardation"
symptom
achondroplasia
alexander disease
alpha-thalassemia
aniridia
aromatase deficiency
canavan disease
classical phenylketonuria
coats disease
cohen syndrome
cowden syndrome
cystinuria
dentin dysplasia
familial hypocalciuric hypercalcemia
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
kabuki syndrome
kallmann syndrome
lamellar ichthyosis
lymphangioleiomyomatosis
monosomy 21
phenylketonuria
primary hyperoxaluria type 1
proteus syndrome
pyruvate dehydrogenase deficiency
sneddon syndrome
triple a syndrome
wolf-hirschhorn syndrome
zellweger syndrome
This symptom has already been validated