WRN Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects
UMass Chan Affiliations
Department of Pediatrics, Division of GeneticsDocument Type
Journal ArticlePublication Date
2016-09-26Keywords
Werner syndromeProgeroid syndrome
WRN
RECQL2
RECQ3
RecQ helicase
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Genetics and Genomics
Pediatrics
Metadata
Show full item recordAbstract
Werner syndrome (WS) is a rare autosomal recessive disorder characterized by a constellation of adult onset phenotypes consistent with an acceleration of intrinsic biological aging. It is caused by pathogenic variants in the WRN gene, which encodes a multifunctional nuclear protein with exonuclease and helicase activities. WRN protein is thought to be involved in optimization of various aspects of DNA metabolism, including DNA repair, recombination, replication, and transcription. In this update, we summarize a total of 83 different WRN mutations, including eight previously unpublished mutations identified by the International Registry of Werner Syndrome (Seattle, WA) and the Japanese Werner Consortium (Chiba, Japan), as well as 75 mutations already reported in the literature. The Seattle International Registry recruits patients from all over the world to investigate genetic causes of a wide variety of progeroid syndromes in order to contribute to the knowledge of basic mechanisms of human aging. Given the unusually high prevalence of WS patients and heterozygous carriers in Japan, the major goal of the Japanese Consortium is to develop effective therapies and to establish management guidelines for WS patients in Japan and elsewhere. This review will also discuss potential translational approaches to this disorder, including those currently under investigation.Source
Hum Mutat. 2016 Sep 26. doi: 10.1002/humu.23128. Link to article on publisher's siteDOI
10.1002/humu.23128Permanent Link to this Item
http://hdl.handle.net/20.500.14038/43536PubMed ID
27667302Notes
Full author list omitted for brevity. See article for full author list.
Related Resources
Link to Article in PubMedae974a485f413a2113503eed53cd6c53
10.1002/humu.23128