Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
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
"cleft palate"
symptom
22q11.2 deletion syndrome
aniridia
congenital diaphragmatic hernia
cystinuria
hirschsprung disease
kabuki syndrome
kallmann syndrome
monosomy 21
neuralgic amyotrophy
oligodontia
phenylketonuria
This symptom has already been validated