Mutations in the LMNA gene encoding lamin A/C

Very recently, mutations within the LMNA gene on chromosome 1q21.2 were sho wn to result in forms of muscular dystrophy, conduction system disease, car diomyopathy, and partial lipodystrophy. The LMNA gene encodes for the nucle ophilic A-type lamins, lamin A and lamin C. These isoforms are generated by different splicing within exon 10 of LMNA. Thus lamin A/C is, besides emer in, the first known nucleophilic protein which plays a role in human diseas e. To date, 41 different mutations, predominantly missense, in the LMNA gen e are known causing variable phenotypes, Twenty-three different mutations o f LMNA have so far been shown to cause autosomal-dominant Emery-Dreifuss mu scular dystrophy (EDMD2), three mutations were reported to cause limb-girdl e muscular dystrophy (LGMD1B), eight mutations are known to result in dilat ed cardiomyopathy (CMD1A), and seven mutations were reported to cause famil ial partial lipodystrophy (FPL). The reports of lamin mutations including t he corresponding phenotype are of great interest in order to gain insights into the function of lamin A/C. Here we summarize the mutations published t o date in LMNA encoding lamin A/C. Hum Mutat 16:451-459, 2000. (C) 2000 Wil ey-Liss, Inc.