Ontology highlight
ABSTRACT:
SUBMITTER: Eriksson M
PROVIDER: S-EPMC10540076 | biostudies-literature | 2003 May
REPOSITORIES: biostudies-literature
Eriksson Maria M Brown W Ted WT Gordon Leslie B LB Glynn Michael W MW Singer Joel J Scott Laura L Erdos Michael R MR Robbins Christiane M CM Moses Tracy Y TY Berglund Peter P Dutra Amalia A Pak Evgenia E Durkin Sandra S Csoka Antonei B AB Boehnke Michael M Glover Thomas W TW Collins Francis S FS
Nature 20030425 6937
Hutchinson-Gilford progeria syndrome (HGPS) is a rare genetic disorder characterized by features reminiscent of marked premature ageing. Here, we present evidence of mutations in lamin A (LMNA) as the cause of this disorder. The HGPS gene was initially localized to chromosome 1q by observing two cases of uniparental isodisomy of 1q-the inheritance of both copies of this material from one parent-and one case with a 6-megabase paternal interstitial deletion. Sequencing of LMNA, located in this int ...[more]