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Heterozygous FGF8 mutations in patients presenting cryptorchidism and multiple VATER/VACTERL features without limb anomalies.
[kallmann syndrome]
The
acronym
VATER
/
VACTERL
association
describes
the
combination
of
at
least
three
of
the
following
cardinal
features
:
vertebral
defects
,
anorectal
malformations
,
cardiac
defects
,
tracheoesophageal
fistula
with
or
without
esophageal
atresia
,
renal
malformations
,
and
limb
defects
.
Although
fibroblast
growth
factor
-
8
(
FGF
8
)
mutations
have
mainly
found
in
patients
with
Kallmann
syndrome
,
mice
with
a
hypomorphic
Fgf
8
allele
or
complete
gene
invalidation
display
,
aside
from
gonadotropin-releasing
hormone
deficiency
,
parts
or
even
the
entire
spectrum
of
human
VATER
/
VACTERL
association
.
We
performed
FGF
8
gene
analysis
in
49
patients
with
VATER
/
VACTERL
association
and
27
patients
presenting
with
a
VATER
/
VACTERL-like
phenotype
(
two
cardinal
features
)
.
We
identified
two
heterozygous
FGF
8
mutations
in
patients
displaying
either
VATER
/
VACTERL
association
(
p
.
G
ly
29
_
Arg
34
dup
)
or
a
VATER
/
VACTERL-like
phenotype
(
p
.
Pro
26
Leu
)
without
limb
anomalies
.
Whereas
the
duplication
mutation
has
not
been
reported
before
,
p
.
Pro
26
Leu
was
once
observed
in
a
Kallmann
syndrome
patient
.
Both
our
patients
had
additional
bilateral
cryptorchidism
,
a
key
phenotypic
feature
in
males
with
FGF
8
associated
Kallmann
syndrome
.
Each
mutation
was
paternally
inherited
.
Besides
delayed
puberty
in
both
and
additional
unilateral
cryptorchidism
in
one
of
the
fathers
,
they
were
otherwise
healthy
.
Serum
hormone
levels
downstream
the
gonadotropin-releasing
hormone
in
both
patients
and
their
fathers
were
within
normal
range
.
Our
results
suggest
FGF
8
mutations
to
contribute
to
the
formation
of
the
VATER
/
VACTERL
association
.
Further
studies
are
needed
to
support
this
observation
.
Birth
Defects
Research
(
Part
A
)
100
:
750
-
759
,
2014
.
©
2014
Wiley
Periodicals
,
Inc
.
Diseases
Validation
Diseases presenting
"delayed puberty"
symptom
alpha-thalassemia
kallmann syndrome
This symptom has already been validated