Rare Diseases Symptoms Automatic Extraction
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A random Abstract
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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
"intellectual disability"
symptom
22q11.2 deletion syndrome
alexander disease
alpha-thalassemia
aniridia
child syndrome
cohen syndrome
cowden syndrome
hirschsprung disease
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
kabuki syndrome
kallmann syndrome
monosomy 21
oculocutaneous albinism
oligodontia
phenylketonuria
proteus syndrome
triple a syndrome
wolf-hirschhorn syndrome
This symptom has already been validated