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De novo ANKRD11 and KDM1A gene mutations in a male with features of KBG syndrome and Kabuki syndrome.
[kabuki syndrome]
KBG
syndrome
is
a
rare
,
autosomal
dominant
disorder
caused
by
mutations
or
deletions
leading
to
haploinsufficiency
for
the
Ankrin
Repeating
Domain-
Containing
protein
11
(
ANKRD
11
)
at
chromosome
16
q
24
.
3
.
Kabuki
syndrome
is
caused
by
mutations
or
deletions
of
lysine
(
K
)
-
specific
methyltransferase
2
D
(
KMT
2
D
)
and
lysine-
specific
methylase
6
A
(
KDM
6
A
)
.
We
report
on
a
male
with
developmental
delays
,
cleft
palate
,
craniofacial
dysmorphism
,
hypotonia
,
and
central
nervous
system
anomalies
including
diminished
white
matter
with
thinning
of
the
corpus
callosum
.
Exome
sequencing
revealed
a
de
novo
mutation
in
ANKRD
11
,
c
.
2606
_
2608
delAGA
,
predicting
p
.
Lys
869
del
and
an
additional
,
de
novo
mutation
,
c
.
2353
T
>
C
,
predicting
p
.
T
yr
785
H
is
in
KDM
1
A
,
a
gene
not
previously
associated
with
a
human
phenotype
.
We
describe
this
child
as
the
first
report
of
a
deleterious
sequence
variant
in
KDM
1
A
and
hypothesize
that
his
phenotype
resulted
from
the
combined
effect
of
both
mutations
.
Diseases
Validation
Diseases presenting
"combined effect of both mutations"
symptom
kabuki syndrome
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