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Our Project
Our Team
[Mutation analysis of a Chinese family with genetic dentinogenesis imperfecta].
[dentinogenesis imperfecta]
To
study
the
genetic
etiology
of
an
autosomal
dominant
dentinogenesis
imperfecta
in
a
Chinese
family
.
The
molecular
change
of
the
disease
in
the
family
was
analyzed
through
the
clinical
examination
,
linkage
analysis
,
mutational
screening
of
the
DSPP
gene
and
restriction
fragment
length
polymorphism
analysis
.
The
disease
related
gene
was
completely
linked
with
microsatellite
marker
D
4
S
1534
.
We
found
a
novel
mutation
in
the
first
exon
of
the
DSPP
gene
(
c
.
49
C
>
T
,
p
.
Pro
17
S
er
)
.
All
patients
in
the
family
had
the
mutation
,
while
this
mutation
was
not
observed
in
the
normal
individuals
of
this
family
and
100
unrelated
controls
.
The
p
.
Pro
17
S
er
identified
in
the
family
was
a
new
pathogenic
mutation
.
Our
finding
provided
further
understanding
of
the
molecular
mechanism
of
dentinogenesis
imperfecta
.
Diseases
Validation
Diseases presenting
"first exon"
symptom
aromatase deficiency
cystinuria
dentinogenesis imperfecta
epidermolysis bullosa simplex
hydrocephalus with stenosis of the aqueduct of sylvius
oligodontia
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