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Mutations in FKBP10 can cause a severe form of isolated Osteogenesis imperfecta.
[dentinogenesis imperfecta]
Mutations
in
the
FKBP
10
gene
were
first
described
in
patients
with
Osteogenesis
imperfecta
type
III
.
Two
follow
up
reports
found
FKBP
10
mutations
to
be
associated
with
Bruck
syndrome
type
1
,
a
rare
disorder
characterized
by
congenital
contractures
and
bone
fragility
.
This
raised
the
question
if
the
patients
in
the
first
report
indeed
had
isolated
Osteogenesis
imperfecta
or
if
Bruck
syndrome
would
have
been
the
better
diagnosis
.
The
patients
described
here
are
affected
by
severe
autosomal
recessive
Osteogenesis
imperfecta
without
contractures
.
Homozygosity
mapping
identified
FKBP
10
as
a
candidate
gene
,
and
sequencing
revealed
a
base
pair
exchange
that
causes
a
C-
terminal
premature
stop
codon
in
this
gene
.
Our
study
demonstrates
that
FKBP
10
mutations
not
only
cause
Bruck
syndrome
or
Osteogenesis
imperfecta
type
III
but
can
result
in
a
severe
type
of
isolated
Osteogenesis
imperfecta
type
IV
with
prenatal
onset
.
Furthermore
,
it
adds
dentinogenesis
imperfecta
to
the
spectrum
of
clinical
symptoms
associated
with
FKBP
10
mutations
.
Diseases
Validation
Diseases presenting
"bone fragility"
symptom
achondroplasia
dentinogenesis imperfecta
This symptom has already been validated