LMNA mutations in atypical Werner's syndrome

Sir-The University of Washington International Registry of Werner Syndrome was set up in 1987 to collect information on patients with [Werner]'s syndrome from all over the world based on a set of clinical criteria, providing definite, probable, or possible diagnoses. The database was established before the WRN and LMNA genes were identified; only those cases classed as definite or probable were used for the positional cloning experiments that lead to the discovery of the WRN locus. Clinicians worldwide subsequently submitted cases with overlapping progeroid features, a minor subset of whom had the LMNA mutations described in our report. In accordance with the trend to categorise disorders on the basis of the responsible genes instead of clinical symptoms or pathological findings, the term laminopathy would be an appropriate designation for the growing set of disorders caused by LMNA mutations, and might eventually replace such nomenclatures as "muscular dystrophy with lipodystrophy". Mandibuloacral dysplasia is usually listed in the differential diagnoses of Hutchinson-Gilford progeria (most commonly caused by G608G mutation, as pointed out by Gisele Bonne and [Nicolas Levy]); we now know how these two disorders are related.