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Recessive oligodontia linked to a homozygous loss-of-function mutation in the SMOC2 gene.
[oligodontia]
Recently
,
several
genes
have
been
reported
with
mutations
or
variants
that
underlie
a
number
of
syndromic
and
non-syndromic
forms
of
oligodontia
including
MSX
1
,
PAX
9
,
AXIN
2
,
EDA
and
WNT
10
A
.
This
study
aimed
to
identify
the
causal
mutations
in
a
consanguineous
Pakistan
family
with
oligodontia
and
microdontia
.
Exome
sequencing
was
performed
in
two
of
affected
members
of
the
Pakistan
family
.
The
exome
sequencing
data
revealed
that
the
affected
individuals
were
homozygous
with
a
novel
mutation
in
exon
8
of
the
SMOC
2
gene
,
c
.
681
T
>
A
(
p
.
C
2
27
X
)
.
This
is
the
second
report
describing
SMOC
2
mutations
with
oligodontia
and
microdontia
underlining
the
key
role
for
this
signalling
molecule
in
tooth
development
.
