Dataset Information
Next Generation Mendelian Genetics: Atypical Werner Syndrome
Ontology highlight
ABSTRACT: 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.
PROVIDER: phs000434.v1.p1 | EGA |
REPOSITORIES: EGA
Publications
LMNA mutations in atypical Werner's syndrome.
Lancet (London, England) 20030801 9382
<h4>Background</h4>Werner's syndrome is a progeroid syndrome caused by mutations at the WRN helicase locus. Some features of this disorder are also present in laminopathies caused by mutant LMNA encoding nuclear lamin A/C. Because of this similarity, we sequenced LMNA in individuals with atypical Werner's syndrome (wild-type WRN).<h4>Methods</h4>Of 129 index patients referred to our international registry for molecular diagnosis of Werner's syndrome, 26 (20%) had wildtype WRN coding regions and ...[more]
