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Congenital adrenal hyperplasia, ovarian failure and Ehlers-Danlos syndrome due to a 6p deletion.
[congenital adrenal hyperplasia]
Cryptic
deletions
in
balanced
de
novo
translocations
represent
a
frequent
cause
of
abnormal
phenotypes
,
including
Mendelian
diseases
.
In
this
study
,
we
describe
a
patient
with
multiple
congenital
abnormalities
,
such
as
late-onset
congenital
adrenal
hyperplasia
(
CAH
)
,
primary
ovarian
failure
and
Ehlers-
Danlos
syndrome
(
EDS
)
,
who
carries
a
de
novo
t
(
6
;
14
)
(
p
21
;
q
32
)
translocation
.
Genomic
array
analysis
identified
a
cryptic
1
.
1
-
Mb
heterozygous
deletion
,
adjacent
to
the
breakpoint
on
chromosome
6
,
extending
from
6
p
21
.
33
to
6
p
21
.
32
and
affecting
85
genes
,
including
CYP
21
A
2
,
TNXB
and
MSH
5
.
Multiplex
ligation-dependent
probe
amplification
analysis
of
the
6
p
21
.
3
region
was
performed
in
the
patient
and
her
family
and
revealed
a
30
-
kb
deletion
in
the
patient
's
normal
chromosome
6
,
inherited
from
her
mother
,
resulting
in
homozygous
loss
of
genes
CYP
21
A
1
P
and
C
4
B
.
CYP
21
A
2
sequencing
showed
that
its
promoter
region
was
not
affected
by
the
30
-
kb
deletion
,
suggesting
that
the
deletion
of
other
regulatory
sequences
in
the
normal
chromosome
6
caused
a
loss
of
function
of
the
CYP
21
A
2
gene
.
EDS
and
primary
ovarian
failure
phenotypes
could
be
explained
by
the
loss
of
genes
TNXB
and
MSH
5
,
a
finding
that
may
contribute
to
the
characterization
of
disease-causing
genes
.
The
detection
of
this
de
novo
microdeletion
drastically
reduced
the
estimated
recurrence
risk
for
CAH
in
the
family
.
Diseases
Validation
Diseases presenting
"primary ovarian failure"
symptom
congenital adrenal hyperplasia
This symptom has already been validated