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A novel splicing mutation alters DSPP transcription and leads to dentinogenesis imperfecta type II.
[dentinogenesis imperfecta]
Dentinogenesis
imperfecta
(
DGI
)
type
II
is
an
autosomal
dominant
disease
characterized
by
a
serious
disorders
in
teeth
.
Mutations
of
dentin
sialophosphoprotein
(
DSPP
)
gene
were
revealed
to
be
the
causation
of
DGI
type
II
(
DGI
-
II
)
.
In
this
study
,
we
identified
a
novel
mutation
(
NG
_
011595
.
1
:
g
.
8662
T
>
C
,
c
.
135
+
2
T
>
C
)
lying
in
the
splice
donor
site
of
intron
3
of
DSPP
gene
in
a
Chinese
Han
DGI
-
II
pedigree
.
It
was
found
in
all
affected
subjects
but
not
in
unaffected
ones
or
other
unrelated
healthy
controls
.
The
function
of
the
mutant
DSPP
gene
,
which
was
predicted
online
and
subsequently
confirmed
by
in
vitro
splicing
analysis
,
was
the
loss
of
splicing
of
intron
3
,
leading
to
the
extended
length
of
DSPP
mRNA
.
For
the
first
time
,
the
functional
non-splicing
of
intron
was
revealed
in
a
novel
DSPP
mutation
and
was
considered
as
the
causation
of
DGI
-
II
.
It
was
also
indicated
that
splicing
was
of
key
importance
to
the
function
of
DSPP
and
this
splice
donor
site
might
be
a
sensitive
mutation
hot
spot
.
Our
findings
combined
with
other
reports
would
facilitate
the
genetic
diagnosis
of
DGI
-
II
,
shed
light
on
its
gene
therapy
and
help
to
finally
conquer
human
diseases
.
Diseases
Validation
Diseases presenting
"first time"
symptom
achondroplasia
acute rheumatic fever
adrenal incidentaloma
adrenomyeloneuropathy
alpha-thalassemia
aniridia
aromatase deficiency
canavan disease
carcinoma of the gallbladder
cholangiocarcinoma
classical phenylketonuria
congenital adrenal hyperplasia
congenital toxoplasmosis
cowden syndrome
cushing syndrome
cutaneous mastocytosis
dedifferentiated liposarcoma
dentin dysplasia
dentinogenesis imperfecta
dracunculiasis
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
erdheim-chester disease
erythropoietic protoporphyria
esophageal adenocarcinoma
esophageal carcinoma
esophageal squamous cell carcinoma
fabry disease
familial mediterranean fever
gm1 gangliosidosis
harlequin ichthyosis
heparin-induced thrombocytopenia
hirschsprung disease
hodgkin lymphoma, classical
holt-oram syndrome
hydrocephalus with stenosis of the aqueduct of sylvius
junctional epidermolysis bullosa
kabuki syndrome
kallmann syndrome
liposarcoma
locked-in syndrome
lymphangioleiomyomatosis
malignant atrophic papulosis
megacystis-microcolon-intestinal hypoperistalsis syndrome
monosomy 21
neuralgic amyotrophy
oculocutaneous albinism
oligodontia
omenn syndrome
oral submucous fibrosis
papillon-lefèvre syndrome
pendred syndrome
phenylketonuria
primary effusion lymphoma
primary hyperoxaluria type 1
severe combined immunodeficiency
sneddon syndrome
triple a syndrome
trochlear dysplasia
von hippel-lindau disease
waldenström macroglobulinemia
well-differentiated liposarcoma
werner syndrome
wiskott-aldrich syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
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