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New mutation identified in two sisters with adult-onset erythropoietic protoporphyria.
[erythropoietic protoporphyria]
Erythropoietic
protoporphyria
(
EPP
;
OMIM
#
177000
)
is
a
rare
disease
that
usually
presents
in
infancy
or
early
childhood
.
The
uncommon
adult-onset
EPP
is
often
associated
with
acquired
somatic
mutations
of
the
FECH
gene
,
secondary
to
blood
dyscracias
.
We
investigated
two
sisters
with
adult-onset
EPP
.
We
found
a
novel
germline
mutation
in
the
FECH
gene
,
in
trans
with
the
common
hypomorphic
IVS
3
-
48
C
allele
.
T
he
adult
presentation
and
identical
genotypes
of
the
two
sisters
suggests
that
the
late
development
of
the
condition
is
to
an
extent
a
function
of
the
mutation
.
The
exact
mechanism
for
this
delayed
penetrance
is
not
clear
,
although
these
atypical
cases
raise
the
possibility
of
other
genetic
or
nongenetic
disease-modifying
factors
.
Diseases
Validation
Diseases presenting
"late development of the condition"
symptom
erythropoietic protoporphyria
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