title: Identification of lamin A/C ( LMNA) gene mutations in Korean patients with autosomal dominant Emery-Dreifuss muscular dystrophy and limb-girdle muscular dystrophy 1B.
abstract: Mutations in the LMNA gene encoding lamins A and C by alternative splicing have been found to cause at least four different kinds of genetic disorders: autosomal dominant Emery-Dreifuss muscular dystrophy (EDMD2; MIM 181350); limb-girdle muscular dystrophy type 1B (LGMD1B; MIM 159001); dilated cardiomyopathy type 1A (CMD1A; MIM 115200); and familial partial lipodystrophy (FPLD; MIM 151660). Recently, we have studied two Korean patients with atrioventricular conduction defects. They had variable extents of muscular dystrophy; one patient was diagnosed with EDMD2 and the other with LGMD1B. We performed a mutation analysis of the LMNA gene by direct sequencing and found two different missense mutations: R249Q and R377L, in the EDMD2 and LGMD1B patient, respectively. The R249Q mutation is located within the central rod domain of the LMNA gene, and has been described in at least five unrelated sporadic EDMD2 patients. On the other hand, the R377L mutation, also located within the rod domain, is a novel mutation, although a histidine substitution instead of leucine (R377H) has been reported previously in an LGMD1B patient. To our knowledge, this is the first report of LMNA gene mutations in Korean patients with EDMD2 and LGMD1B.
authors.affiliation: Department of Clinical Pathology, Sungkyunkwan University School of Medicine, Samsung Medical Center, 50 Ilwon-dong, Kanagnam-ku, Seoul 135-710, Korea. culture@med.skku.ac.kr
authors.forename: Chang-Seok
authors.initials: CS
authors.lastname: Ki
authors.forename: Jong Seo
authors.initials: JS
authors.lastname: Hong
authors.forename: Gyu-Young
authors.initials: GY
authors.lastname: Jeong
authors.forename: Kyoung Ju
authors.initials: KJ
authors.lastname: Ahn
authors.forename: Kwang-Mo
authors.initials: KM
authors.lastname: Choi
authors.forename: Duk-Kyung
authors.initials: DK
authors.lastname: Kim
authors.forename: Jung-Won
authors.initials: JW
authors.lastname: Kim
mesh_terms: D000328:Adult; D003570:Cytidine Triphosphate / Q000031:analogs & derivatives*; D004252:DNA Mutational Analysis; D054306:Dideoxynucleotides; D005260:Female; D005799:Genes, Dominant / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D007723:Korea; D034904:Lamin Type A; D034882:Lamins; D019259:Lamivudine / Q000031:analogs & derivatives*; D009136:Muscular Dystrophies / Q000235:genetics; D020389:Muscular Dystrophy, Emery-Dreifuss / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics* / Q000378:metabolism; D010375:Pedigree
chemical_list: D054306:Dideoxynucleotides; D034904:Lamin Type A; D034882:Lamins; D009687:Nuclear Proteins; C417268:lamivudine triphosphate; D019259:Lamivudine; D003570:Cytidine Triphosphate