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Molecular basis of Kindler syndrome in Italy: novel and recurrent Alu/Alu recombination, splice site, nonsense, and frameshift mutations in the KIND1 gene.
[kindler syndrome]
Kindler
syndrome
(
KS
)
is
a
rare
autosomal
recessive
disorder
characterized
by
skin
blistering
in
childhood
followed
by
photosensitivity
and
progressive
poikiloderma
.
Most
cases
of
KS
result
from
mutations
in
the
KIND
1
gene
encoding
kindlin-
1
,
a
component
of
focal
adhesions
in
keratinocytes
.
Here
,
we
report
novel
and
recurrent
KIND
1
gene
mutations
in
nine
unrelated
Italian
KS
individuals
.
A
novel
genomic
deletion
of
approximately
3
.
9
kb
was
identified
in
four
patients
originating
from
the
same
Italian
region
.
This
mutation
deletes
exons
10
and
11
from
the
KIND
1
mRNA
leading
to
a
truncated
kindlin-
1
.
The
deletion
breakpoint
was
embedded
in
AluSx
repeats
,
specifically
in
identical
30
-
bp
sequences
,
suggesting
Alu-mediated
homologous
recombination
as
the
pathogenic
mechanism
.
KIND
1
haplotype
analysis
demonstrated
that
patients
with
this
large
deletion
were
ancestrally
related
.
Five
additional
mutations
were
disclosed
,
two
of
which
were
novel
.
To
date
,
four
recurrent
mutations
have
been
identified
in
Italian
patients
accounting
for
approximately
approximately
75
%
of
KS
alleles
in
this
population
.
The
abundance
of
repetitive
elements
in
intronic
regions
of
KIND
1
,
together
with
the
identification
of
a
large
deletion
,
suggests
that
genomic
rearrangements
could
be
responsible
for
a
significant
proportion
of
KS
cases
.
This
finding
has
implications
for
optimal
KIND
1
mutational
screening
in
KS
individuals
.
Diseases
Validation
Diseases presenting
"mutations in the kind1 gene"
symptom
kindler syndrome
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