p.S143F mutation in lamin A/C: a new phenotype combining myopathy and progeria.
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.
Kirschner
Janbernd
J
Division of Neuropediatrics and Muscle Disorders, University Children's Hospital Freiburg, Mathildenstrasse 1, 79106 Freiburg, Germany. janbernd.kirschner@uniklinik-freiburg.de
Brune
Thomas
T
Wehnert
Manfred
M
Denecke
Jonas
J
Wasner
Christina
C
Feuer
Anja
A
Marquardt
Thorsten
T
Ketelsen
Uwe-Peter
UP
Wieacker
Peter
P
Bönnemann
Carsten G
CG
Korinthenberg
Rudolf
R
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
D034904:Lamin Type A; C440308:lamin C; D012694:Serine; D010649:Phenylalanine