Rare Diseases Symptoms Automatic Extraction
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Homozygosity mapping and candidate prioritization identify mutations, missed by whole-exome sequencing, in SMOC2, causing major dental developmental defects.
[dentin dysplasia]
Inherited
dental
malformations
constitute
a
clinically
and
genetically
heterogeneous
group
of
disorders
.
Here
,
we
report
on
a
severe
developmental
dental
defect
that
results
in
a
dentin
dysplasia
phenotype
with
major
microdontia
,
oligodontia
,
and
shape
abnormalities
in
a
highly
consanguineous
family
.
Homozygosity
mapping
revealed
a
unique
zone
on
6
q
27
-
ter
.
The
two
affected
children
were
found
to
Â
carry
a
homozygous
mutation
in
SMOC
2
.
Knockdown
of
smoc
2
in
zebrafish
showed
pharyngeal
teeth
that
had
abnormalities
reminiscent
of
the
human
phenotype
.
Moreover
,
smoc
2
depletion
in
zebrafish
affected
the
expression
of
three
major
odontogenesis
genes
:
dlx
2
,
bmp
2
,
and
pitx
2
.
Diseases
Validation
Diseases presenting
"severe developmental dental defect"
symptom
dentin dysplasia
oligodontia
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