title: Homozygous lamin A/C familial lipodystrophy R482Q mutation in autosomal recessive Emery Dreifuss muscular dystrophy.
abstract: Autosomal recessive Emery Dreifuss muscular dystrophy (AR-EDMD) is rare, with few reports in the medical literature. We describe the first cases of AR-EDMD and autosomal dominant familial partial lipodystrophy (FPLD) in the Hutterite population resulting from homozygous or heterozygous R482Q mutations in the lamin A/C gene (LMNA). Heterozygosity for LMNA R482Q mutation causes FPLD, which is associated with increased risk of hyperlipidemia and hypertension. The overall carrier frequency of the R482Q mutation in Dariusleut and Leherleut Hutterites in Alberta was found to be 1.45%. Homozygosity for this mutation has not been previously reported and here resulted in a combination of generalized lipodystrophy and EDMD. Knowledge that the LMNA R482Q mutation is present in this population is important for genetic counseling, surveillance, and management of the associated disorders.
authors: Department of Clinical Neurosciences, Faculty of Medicine, University of Calgary, Canada. ktwiltshire@gmail.com
authors: Katie M
authors: KM
authors: Wiltshire
authors: Robert A
authors: RA
authors: Hegele
authors: A Micheil
authors: AM
authors: Innes
authors: A Keith W
authors: AK
authors: Brownell
mesh_terms: D000416:Alberta; D002648:Child; D018450:Disease Progression; D005260:Female; D006579:Heterozygote; D006801:Humans; D034904:Lamin Type A / Q000235:genetics*; D052496:Lipodystrophy, Familial Partial / Q000235:genetics* / Q000473:pathology; D008297:Male; D018482:Muscle, Skeletal / Q000473:pathology*; D020389:Muscular Dystrophy, Emery-Dreifuss / Q000235:genetics* / Q000473:pathology; D009154:Mutation; D010375:Pedigree; D010641:Phenotype
chemical_list: C494847:LMNA protein, human; D034904:Lamin Type A