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The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients.
[kallmann syndrome]
Mutations
in
CHD
7
,
a
gene
previously
implicated
in
CHARGE
(
coloboma
,
heart
defect
,
choanal
atresia
,
retardation
of
growth
and
/
or
development
,
genital
hypoplasia
,
ear
anomalies
)
syndrome
,
have
been
reported
in
patients
presenting
with
Kallmann
syndrome
(
KS
)
or
congenital
hypogonadotropic
hypogonadism
(
CHH
)
.
Most
mutations
causing
CHARGE
syndrome
result
in
premature
stop
codons
and
occur
de
novo
,
but
the
proportion
of
truncating
vs
nontruncating
mutations
in
KS
and
CHH
patients
is
still
unknown
.
The
objective
of
the
study
was
to
determine
the
nature
,
prevalence
,
mode
of
transmission
,
and
clinical
spectrum
of
CHD
7
mutations
in
a
large
series
of
patients
.
We
studied
209
KS
and
94
CHH
patients
.
These
patients
had
not
been
diagnosed
with
CHARGE
syndrome
according
to
the
current
criteria
.
We
searched
for
mutations
in
16
KS
and
CHH
genes
including
CHD
7
.
We
found
presumably
pathogenic
mutations
in
CHD
7
in
24
KS
patients
but
not
in
CHH
patients
.
Nontruncating
mutations
(
16
missense
and
a
two
-codon
duplication
)
were
more
prevalent
than
truncating
mutations
(
three
nonsense
,
three
frame
shift
,
and
a
splice
site
)
,
which
contrasts
with
patients
presenting
with
typical
CHARGE
syndrome
.
Thus
,
the
clinical
spectrum
associated
with
CHD
7
mutations
may
be
partly
explained
by
genotype
/
phenotype
correlations
.
Eight
patients
also
had
congenital
deafness
and
one
had
a
cleft
lip
/
palate
,
whereas
six
had
both
.
For
10
patients
,
the
presence
of
diverse
features
of
the
CHARGE
spectrum
in
at
least
one
relative
argues
against
a
de
novo
appearance
of
the
missense
mutation
,
and
this
was
confirmed
by
genetic
analysis
in
five
families
.
Considering
the
large
prevalence
and
clinical
spectrum
of
CHD
7
mutations
,
it
will
be
particularly
relevant
to
genetic
counseling
to
search
for
mutations
in
this
gene
in
KS
patients
seeking
fertility
treatment
,
especially
if
KS
is
associated
with
deafness
and
cleft
lip
/
palate
.
Diseases
Validation
Diseases presenting
"heart defect"
symptom
22q11.2 deletion syndrome
congenital diaphragmatic hernia
holt-oram syndrome
kabuki syndrome
kallmann syndrome
wolf-hirschhorn syndrome
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