Rare Diseases Symptoms Automatic Extraction
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A random Abstract
Our Project
Our Team
Identification of mutations in a new gene encoding a FERM family protein with a pleckstrin homology domain in Kindler syndrome.
[kindler syndrome]
Kindler
syndrome
is
a
rare
autosomal-recessive
genodermatosis
characterized
by
bullous
poikiloderma
with
photosensitivity
.
We
report
the
localization
to
chromosome
20
p
12
.
3
by
homozygosity
mapping
and
the
identification
of
a
new
gene
,
which
we
propose
to
name
kindlerin
.
We
found
four
different
homozygous
mutations
in
four
consanguineous
families
from
North
Africa
and
Senegal
;
three
are
expected
to
lead
to
premature
stop
codons
and
truncated
proteins
and
the
fourth
involves
a
splice
site
.
We
were
unable
to
identify
a
mutation
in
kindlerin
in
a
fifth
consanguineous
family
from
Algeria
with
a
similar
phenotype
and
in
which
the
patient
was
homozygous
for
the
markers
in
the
20
p
12
.
3
interval
.
The
kindlerin
protein
contains
several
domains
which
are
shared
by
a
diverse
group
of
peripheral
membrane
proteins
that
function
as
membrane-cytoskeleton
linkers
:
two
regions
homologous
to
band
4
.
1
domain
of
which
one
includes
a
FERM
domain
with
a
NPKY
sequence
motif
,
and
a
third
region
with
a
PH
or
pleckstrin
homology
domain
.
Kindlerin
might
be
involved
in
the
bidirectional
signaling
between
integrin
molecules
in
the
membrane
and
the
cytoskeleton
,
and
could
be
involved
in
cell
adhesion
processes
via
integrin
signaling
.