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The most frequent DCLRE1C (ARTEMIS) mutations are based on homologous recombination events.
[omenn syndrome]
The
nuclease
ARTEMIS
is
an
essential
factor
of
V
(
D
)
J
recombination
during
lymphocyte
development
and
in
the
repair
of
DNA
double
-strand
breaks
(
DSB
)
by
the
nonhomologous
end
joining
(
NHEJ
)
pathway
.
Patients
with
mutations
in
the
DCLRE
1
C
gene
,
which
encodes
ARTEMIS
,
suffer
from
radiosensitive
B
(
-
/
low
)
T
(
-
/
low
)
severe
combined
immunodeficiency
(
SCID
)
or
radiosensitive
Omenn
syndrome
.
To
date
,
causative
DCLRE
1
C
mutations
inherited
as
a
recessive
trait
have
been
reported
in
49
patients
.
In
this
study
,
molecular
diagnoses
of
29
novel
patients
presenting
with
the
phenotype
of
B
(
-
/
low
)
SCID
revealed
mutations
in
the
DCLRE
1
C
gene
.
In
total
,
13
different
mutated
DCLRE
1
C
alleles
were
detected
,
nine
of
which
have
not
been
described
before
.
By
far
the
most
frequent
mutations
(
59
%
)
were
gross
deletions
of
exons
1
-
3
or
exons
1
-
4
due
to
a
homologous
recombination
of
the
wild-
type
DCLRE
1
C
gene
with
a
pseudo-
DCLRE
1
C
gene
located
61
.
2
kb
5
'
to
the
DCLRE
1
C
start
codon
.
Fine
mapping
of
the
recombination
intervals
revealed
private
mutations
in
most
cases
.
MEIG
1
,
a
gene
encoding
a
protein
that
is
essential
for
spermatogenesis
in
mice
,
is
lost
by
the
gross
deletions
.
Functional
analyses
on
patients
'
fibroblasts
demonstrated
that
the
corresponding
alleles
carry
null
mutations
of
the
DCLRE
1
C
gene
.
Diseases
Validation
Diseases presenting
"mutations in the dclre1c gene"
symptom
omenn syndrome
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