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Truncation of the Down syndrome candidate gene DYRK1A in two unrelated patients with microcephaly.
[monosomy 21]
We
have
identified
and
characterized
two
unrelated
patients
with
prenatal
onset
of
microcephaly
,
intrauterine
growth
retardation
,
feeding
problems
,
developmental
delay
,
and
febrile
seizures
/
epilepsy
who
both
carry
a
de
novo
balanced
translocation
that
truncates
the
DYRK
1
A
gene
at
chromosome
21
q
22
.
2
.
DYRK
1
A
belongs
to
the
dual-specificity
tyrosine
phosphorylation-regulated
kinase
(
DYRK
)
family
,
which
is
highly
conserved
throughout
evolution
.
Given
its
localization
in
both
the
Down
syndrome
critical
region
and
in
the
minimal
region
for
partial
monosomy
21
,
the
gene
has
been
studied
intensively
in
animals
and
in
humans
,
and
DYRK
1
A
has
been
proposed
to
be
involved
in
the
neurodevelopmental
alterations
associated
with
these
syndromes
.
In
the
present
study
,
we
show
that
truncating
mutations
of
DYRK
1
A
result
in
a
clinical
phenotype
including
microcephaly
.
Diseases
Validation
Diseases presenting
"these syndromes"
symptom
child syndrome
cowden syndrome
monosomy 21
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