Syndrome-causing mutations in Werner syndrome.

Abstract:

:Complete loss of function in the WRN: RecQ3 DNA/RNA helicase gene causes Werner Syndrome (WS). WS patients with genetic instability manifest an early onset of age-related diseases including diabetes mellitus (DM), osteoporosis, atherosclerosis, and malignancy as well as early death. In 1,420 patients, WS was reported to be associated with chromosomal abnormality syndrome and other genetic diseases including Klinefelter syndrome in 2 patients, retinitis pigmentosa in 3, Wilson's disease in 1, xeroderma pigmentosum in 3, and porokeratosis Mibelli in 1. These clinical findings may support the concept of genetic instability in WS.

journal_name

Biosci Trends

journal_title

Bioscience trends

authors

Goto M

subject

Has Abstract

pub_date

2008-08-01 00:00:00

pages

147-50

issue

4

eissn

1881-7815

issn

1881-7823

journal_volume

2

pub_type

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