Rare Diseases Symptoms Automatic Extraction
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A random Abstract
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Our Team
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
"cleft palate"
symptom
22q11.2 deletion syndrome
aniridia
congenital diaphragmatic hernia
cystinuria
hirschsprung disease
kabuki syndrome
kallmann syndrome
monosomy 21
neuralgic amyotrophy
oligodontia
phenylketonuria
This symptom has already been validated