Mutations in the LMNA gene encoding lamin A/C.
Very recently, mutations within the LMNA gene on chromosome 1q21.2 were shown to result in forms of muscular dystrophy, conduction-system disease, cardiomyopathy, and partial lipodystrophy. The LMNA gene encodes for the nucleophilic 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 emerin, the first known nucleophilic protein which plays a role in human disease. To date, 41 different mutations, predominantly missense, in the LMNA gene are known causing variable phenotypes. Twenty-three different mutations of LMNA have so far been shown to cause autosomal-dominant Emery-Dreifuss muscular dystrophy (EDMD2), three mutations were reported to cause limb-girdle muscular dystrophy (LGMD1B), eight mutations are known to result in dilated cardiomyopathy (CMD1A), and seven mutations were reported to cause familial partial lipodystrophy (FPL). The reports of lamin mutations including the corresponding phenotype are of great interest in order to gain insights into the function of lamin A/C. Here we summarize the mutations published to date in LMNA encoding lamin A/C.
Genschel
J
J
Medizinische Klinik mit Schwerpunkt für Gastroenterologie, Hepatologie und Endokrinologie, Campus Charité Mitte, Berlin, Germany.
Schmidt
H H
HH
D000818:Animals; D002311:Cardiomyopathy, Dilated / Q000235:genetics; D005796:Genes / Q000235:genetics*; D006801:Humans; D034904:Lamin Type A; D034882:Lamins; D008060:Lipodystrophy / Q000235:genetics; D009136:Muscular Dystrophies / Q000235:genetics; D009154:Mutation / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics*
D034904:Lamin Type A; D034882:Lamins; D009687:Nuclear Proteins; C440308:lamin C