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Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome.
[child syndrome]
CK
syndrome
(
CKS
)
is
an
X-
linked
recessive
intellectual
disability
syndrome
characterized
by
dysmorphism
,
cortical
brain
malformations
,
and
an
asthenic
build
.
Through
an
X
chromosome
single
-nucleotide
variant
scan
in
the
first
reported
family
,
we
identified
linkage
to
a
5
Mb
region
on
Xq
28
.
Sequencing
of
this
region
detected
a
segregating
3
bp
deletion
(
c
.
696
_
698
del
[
p
.
Lys
232
del
]
)
in
exon
7
of
NAD
(
P
)
dependent
steroid
dehydrogenase-like
(
NSDHL
)
,
a
gene
that
encodes
an
enzyme
in
the
cholesterol
biosynthesis
pathway
.
We
also
found
that
males
with
intellectual
disability
in
another
reported
family
with
an
NSDHL
mutation
(
c
.
1098
dup
[
p
.
Arg
367
SerfsX
33
]
)
have
CKS
.
These
two
mutations
,
which
alter
protein
folding
,
show
temperature-sensitive
protein
stability
and
complementation
in
Erg
26
-
deficient
yeast
.
As
described
for
the
allelic
disorder
CHILD
syndrome
,
cells
and
cerebrospinal
fluid
from
CKS
patients
have
increased
methyl
sterol
levels
.
We
hypothesize
that
methyl
sterol
accumulation
,
not
only
cholesterol
deficiency
,
causes
CKS
,
given
that
cerebrospinal
fluid
cholesterol
,
plasma
cholesterol
,
and
plasma
24
S-
hydroxycholesterol
levels
are
normal
in
males
with
CKS
.
In
summary
,
CKS
expands
the
spectrum
of
cholesterol-related
disorders
and
insight
into
the
role
of
cholesterol
in
human
development
.
Diseases
Validation
Diseases presenting
"cortical brain malformations"
symptom
child syndrome
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