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A novel splicing mutation and haplotype analysis of the FECH gene in a Chinese family with erythropoietic protoporphyria.
[erythropoietic protoporphyria]
Erythropoietic
protoporphyria
(
EPP
)
is
a
rare
autosomal
dominant
disorder
of
haeme
biosynthesis
resulting
from
a
partial
decrease
in
ferrochelatase
(
FECH
)
activity
leading
to
excessive
accumulation
of
protoporphyrin
.
Clinical
manifestation
normally
requires
coinheritance
of
a
common
hypomorphic
FECH
allele
and
a
deleterious
FECH
mutation
.
The
aim
of
this
study
was
to
characterize
the
inheritance
of
a
Chinese
family
with
EPP
at
molecular
level
,
by
identification
and
analysis
of
FECH
sequence
variation
,
including
the
IVS
3
-
48
C
polymorphisms
.
Polymerase
chain
reaction
amplification
was
employed
to
identify
the
FECH
sequence
variation
,
including
the
IVS
3
-
48
C
polymorphism
,
in
a
Chinese
EPP
family
and
a
matched
control
cohort
.
A
splicing
mutation
in
IVS
3
+
1
G--
>
A
was
identified
in
the
proband
as
well
as
his
symptomatic
sister
,
cousin
,
his
grandfather
and
his
asymptomatic
mother
,
but
was
absent
in
his
father
and
grandmother
.
All
the
family
members
with
overt
photosensitivity
carried
the
low
-expressed
allele
IVS
3
-
48
C
,
which
were
absent
in
the
asymptomatic
EPP
patients
of
this
family
.
We
described
a
novel
splicing
FECH
mutation
in
a
Chinese
EPP
family
and
analysed
the
hypomorphic
IVS
3
-
48
C
allele
,
which
were
believed
to
be
responsible
for
generating
the
phenotypic
symptoms
in
this
family
.