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Recurrent splice-site mutation in MBTPS2 underlying IFAP syndrome with Olmsted syndrome-like features in a Chinese patient.
[hirschsprung disease]
Mutations
in
MBTPS
2
have
been
reported
to
cause
a
broad
phenotypic
spectrum
of
X-
linked
genodermatoses
,
including
IFAP
(
ichthyosis
follicularis
;
atrichia
and
photophobia
)
syndrome
(
OMIM
308205
)
with
or
without
BRESHECK
(
brain
anomalies
,
retardation
of
mentality
and
growth
,
ectodermal
dysplasia
,
skeletal
malformations
,
Hirschsprung
disease
,
ear
deformity
and
deafness
,
eye
hypoplasia
,
cleft
palate
,
cryptorchidism
,
and
kidney
dysplasia
/
hypoplasia
)
syndrome
,
keratosis
follicularis
spinulosa
decalvans
(
KFSD
;
OMIM
308800
)
and
an
X-
linked
form
of
Olmsted
syndrome
.
We
report
a
recurrent
intronic
mutation
in
MBTPS
2
(
c
.
671
-
9
T
>
G
)
in
a
Chinese
patient
with
the
typical
triad
of
IFAP
syndrome
(
i
.
e
.
ichthyosis
,
atrichia
and
photophobia
)
,
along
with
pachyonychia
,
palmoplantar
and
periorificial
keratoderma
,
which
were
reminiscent
of
Olmsted
syndrome
.
Interestingly
,
this
mutation
was
previously
reported
in
two
cases
of
IFAP
without
keratoderma
,
which
suggests
clinical
heterogeneicity
of
the
same
mutation
in
MBTPS
2
.
The
concomitance
of
Olmsted
syndrome
-like
features
in
this
patient
with
IFAP
may
challenge
the
existence
of
the
X-
linked
form
of
Olmsted
syndrome
as
an
independent
condition
.
Diseases
Validation
Diseases presenting
"retardation of mentality and growth"
symptom
hirschsprung disease
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