Next Generation Mendelian Genetics: Atypical Werner Syndrome

Werner syndrome (WS) is an adult-onset progeroid syndrome characterized by accelerated aging. The International Registry of Werner Syndrome in the Department of Pathology, University of Washington, collects WS cases from all over the world. Classical WS is caused by WRN mutations. Those who do not carry WRN are categorized as "atypical Werner syndrome." A small subset of atypical WS is caused by LMNA mutations. There also are many cases whose causes are still unknown. The purpose of this study is to identify other causative gene(s) of atypical WS.]]>
Inclusion to the study is based on the clinical criteria of Werner syndrome ( http://www.wernersyndrome.org/registry/diagnostic.html). Those who have WRN mutations and LMN mutations are excluded.]]>
The International Registry of Werner Syndrome at the Department of Pathology, University of Washington, Seattle, WA, was established in 1988. The original purpose of the Registry was to collect samples from WS patients for positional cloning of WRN. After the successful cloning of WRN gene in 1996, we expanded our Registry to include probable and possible diagnosis of WS to investigate other loci responsible for progeroid syndromes with features overlap with those of WS. In 2003, we identified novel LMNA mutations among atypical WS. We are continuing the search of new progeroid syndrome genes through various approaches.]]>