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Further delineation of genotype-phenotype correlation in homozygous 2p21 deletion syndromes: first description of patients without cystinuria.
[cystinuria]
Homozygous
contiguous
gene
deletion
syndromes
are
rare
.
On
2
p
21
,
however
,
several
overlapping
homozygous
gene
deletion
syndromes
have
been
described
,
all
presenting
with
cystinuria
but
otherwise
distinct
phenotypes
.
Hypotonia
-
cystinuria
syndrome
(
HCS
,
OMIM
606407
)
is
characterized
by
infantile
hypotonia
,
poor
feeding
,
and
growth
hormone
deficiency
.
Affected
individuals
carry
homozygous
deletions
including
the
cystinuria
gene
SLC
3
A
1
and
the
adjacent
PREPL
gene
.
Larger
homozygous
deletions
in
this
region
encompassing
the
PPM
1
B
,
SLC
3
A
1
,
PREPL
,
and
C
2
orf
34
(
CAMKMT
)
genes
result
in
a
more
severe
phenotype
,
the
2
p
21
deletion
syndrome
.
A
phenotype
intermediate
to
HCS
and
the
2
p
21
deletion
syndrome
is
termed
atypical
HCS
and
is
caused
by
deletion
of
SLC
3
A
1
,
PREPL
,
and
C
2
orf
34
(
CAMKMT
)
.
Using
high
resolution
SNP
array
molecular
karyotyping
we
identified
two
siblings
with
a
homozygous
deletion
of
83
kb
partially
encompassing
the
genes
PREPL
and
C
2
orf
34
(
CAMKMT
)
,
but
not
the
SLC
3
A
1
gene
.
The
affected
siblings
display
a
recognizable
phenotype
which
is
similar
to
atypical
HCS
with
regard
to
growth
failure
and
neuro-
muscular
features
,
but
is
characterized
by
lack
of
cystinuria
.
The
patients
also
exhibit
features
which
have
not
been
reported
to
date
such
as
cleft
palate
and
genital
abnormalities
.
In
conclusion
,
we
report
the
first
patients
with
a
homozygous
2
p
21
deletion
syndrome
without
cystinuria
and
further
delineate
the
complex
genotype-phenotype
correlations
of
homozygous
microdeletion
syndromes
of
this
region
.
Diseases
Validation
Diseases presenting
"a more severe phenotype"
symptom
cystinuria
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