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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
"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