title: p.S143F mutation in lamin A/C: a new phenotype combining myopathy and progeria.
abstract: We report a young girl with a phenotype combining early-onset myopathy and a progeria. She had myopathy and marked axial weakness during the first year of life; progeroid features, including growth failure, sclerodermatous skin changes, and osteolytic lesions, developed later. We identified the underlying cause to be a hitherto unreported de novo missense mutation in the LMNA gene (S143F) encoding the nuclear envelope proteins lamins A and C. Although LMNA mutations have been known to cause Hutchinson-Gilford progeria syndrome and Emery-Dreifuss muscular dystrophy, this is the first report of a patient combining features of these two phenotypes because of a single mutation in LMNA.
authors.affiliation: Division of Neuropediatrics and Muscle Disorders, University Children's Hospital Freiburg, Mathildenstrasse 1, 79106 Freiburg, Germany. janbernd.kirschner@uniklinik-freiburg.de
authors.forename: Janbernd
authors.initials: J
authors.lastname: Kirschner
authors.forename: Thomas
authors.initials: T
authors.lastname: Brune
authors.forename: Manfred
authors.initials: M
authors.lastname: Wehnert
authors.forename: Jonas
authors.initials: J
authors.lastname: Denecke
authors.forename: Christina
authors.initials: C
authors.lastname: Wasner
authors.forename: Anja
authors.initials: A
authors.lastname: Feuer
authors.forename: Thorsten
authors.initials: T
authors.lastname: Marquardt
authors.forename: Uwe-Peter
authors.initials: UP
authors.lastname: Ketelsen
authors.forename: Peter
authors.initials: P
authors.lastname: Wieacker
authors.forename: Carsten G
authors.initials: CG
authors.lastname: Bönnemann
authors.forename: Rudolf
authors.initials: R
authors.lastname: Korinthenberg
mesh_terms: D015153:Blotting, Western / Q000379:methods; D002648:Child; D004252:DNA Mutational Analysis / Q000379:methods; D005260:Female; D006801:Humans; D034904:Lamin Type A / Q000235:genetics* / Q000378:metabolism; D009132:Muscles / Q000473:pathology / Q000503:physiopathology; D009135:Muscular Diseases / Q000150:complications / Q000235:genetics* / Q000473:pathology; D020125:Mutation, Missense; D010649:Phenylalanine / Q000235:genetics; D011371:Progeria / Q000150:complications / Q000235:genetics* / Q000473:pathology; D012694:Serine / Q000235:genetics; D013194:Staining and Labeling / Q000379:methods
chemical_list: D034904:Lamin Type A; C440308:lamin C; D012694:Serine; D010649:Phenylalanine