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Ethnic-Specific WRN Mutations in South Asian Werner Syndrome Patients: Potential Founder Effect in Patients with Indian or Pakistani Ancestry.
[werner syndrome]
Werner
syndrome
is
a
rare
autosomal
recessive
disorder
characterized
by
multiple
features
consistent
with
accelerated
aging
.
It
is
caused
by
mutations
in
the
WRN
gene
,
which
encodes
a
RecQ
type
helicase
.
To
date
,
more
than
70
disease-causing
mutations
have
been
reported
.
While
founder
mutations
and
a
corresponding
relatively
high
incidence
of
WS
have
been
reported
in
Japan
and
Sardinia
,
such
mutations
have
not
been
previously
described
among
patients
of
South
Asian
descent
.
Here
we
report
two
novel
WRN
mutations
in
three
pedigrees
.
A
homozygous
c
.
561
A
>
G
mutation
in
exon
6
was
identified
both
in
a
pedigree
from
Kerala
,
India
and
in
a
British
patient
of
Pakistani
ancestry
.
Although
c
.
561
A
>
G
does
not
alter
the
corresponding
amino
acid
(
p
.
K
187
K
)
,
it
creates
a
cryptic
splice
site
resulting
in
a
98
bp
deletion
at
the
mRNA
level
(
r
.
557
-
654
del
98
)
followed
by
a
frameshift
(
p
.
K
187
fs
)
.
These
two
cases
shared
the
same
haplotype
across
the
WRN
gene
,
and
were
distinct
from
another
Indian
Werner
patient
with
a
homozygous
stop
codon
mutation
,
c
.
2855
C
>
A
(
p
.
S
952
*
)
in
exon
24
.
As
the
Indian
population
increases
and
the
awareness
of
Werner
syndrome
grows
,
we
anticipate
that
more
cases
will
be
identified
with
these
founder
mutations
among
South
Asian
Werner
syndrome
patients
.
Diseases
Validation
Diseases presenting
"relatively high incidence"
symptom
esophageal carcinoma
esophageal squamous cell carcinoma
legionellosis
werner syndrome
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