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Analysis of MLL2 gene in the first Brazilian family with Kabuki syndrome.
[kabuki syndrome]
Most
patients
with
Kabuki
syndrome
(
KS
)
are
the
only
person
in
their
family
with
the
condition
.
However
,
familial
cases
of
KS
have
been
described
showing
evidence
that
this
syndrome
can
be
inherited
as
a
dominant
trait
with
variable
expressivity
.
We
report
on
two
related
individuals
with
facial
findings
characteristic
of
KS
.
The
proposita
had
arched
eyebrows
,
long
and
upward
slanting
palpebral
fissures
,
cleft
lip
and
palate
,
retromicrognathia
,
brachydactyly
of
hands
and
feet
,
stubby
fingers
,
nail
hypoplasia
,
and
prominent
finger
pads
.
Her
mother
had
eyebrows
with
dispersed
lateral
half
,
long
and
upward
slanting
palpebral
fissures
,
retrognathia
,
abnormal
and
posteriorly
rotated
ears
,
prominent
finger
pads
,
brachydactyly
of
feet
,
learning
difficulties
,
and
psychomotor
development
delay
.
DNA
sequencing
revealed
a
novel
missense
mutation
in
the
MLL
2
gene
in
both
the
proposita
and
her
mother
.
The
mutation
(
p
.
R
5432
Q
)
was
found
in
the
exon
51
,
within
the
SET
domain
of
the
gene
,
which
confers
methyltransferase
activity
on
the
protein
.
Therefore
,
the
epigenetic
and
transcriptional
regulatory
properties
of
this
protein
may
be
altered
and
this
suggests
that
the
mutation
is
the
cause
of
phenotype
observed
in
both
the
patient
and
her
mother
.
The
clinical
signs
and
the
molecular
evidence
in
this
family
further
support
the
notion
that
KS
is
an
autosomal
dominant
condition
with
variable
expressivity
.
To
our
knowledge
this
is
the
first
report
of
a
Brazilian
family
with
recurrence
of
this
syndrome
.
Diseases
Validation
Diseases presenting
"psychomotor development delay"
symptom
kabuki syndrome
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