Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
A homoallelic FECH mutation in a patient with both erythropoietic protoporphyria and palmar keratoderma.
[erythropoietic protoporphyria]
Erythropoietic
protoporphyria
(
EPP
)
is
a
hereditary
disorder
caused
by
the
deficiency
of
ferrochelatase
(
FECH
)
in
the
haem
biosynthetic
pathway
.
In
the
majority
of
families
,
EPP
is
transmitted
as
a
pseudodominant
trait
.
Autosomal
recessive
form
of
EPP
is
found
in
only
about
3
%
of
the
families
.
In
this
study
,
we
describe
a
6
-
year
-old
boy
who
suffered
from
both
EPP
and
palmar
keratoderma
.
A
novel
homoallelic
missense
mutation
(
p
.
Ser
318
Tyr
)
was
identified
in
the
FECH
gene
.
In
addition
,
a
region
of
homozygosity
of
approximately
6
.
8
Mb
was
observed
in
chromosome
18
of
the
patient
by
both
microsatellite
and
SNP
array
.
The
parents
of
the
patient
,
both
of
Palestinian
(
Jordanian
)
origin
,
were
heterozygous
for
the
S
318
Y
mutation
,
although
no
history
of
consanguinity
was
known
.
Microsatellite
genotyping
identified
a
partial
haplotype
from
each
parent
that
corresponds
to
the
region
of
homozygosity
in
the
patient
.
Assuming
S
318
Y
is
a
founder
mutation
,
the
number
of
generations
separating
the
two
parents
from
their
common
ancestor
from
whom
they
inherited
S
318
Y
was
estimated
as
21
.
7
(
95
%
CI
3
.
42
–
69
.
7
)
.
EPP
was
therefore
inherited
as
an
autosomal
recessive
trait
in
the
family
.
This
study
confirms
the
association
between
palmar
keratoderma
and
autosomal
recessive
EPP
.