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Mutations in the LMNA gene encoding lamin A/C
Author(s) -
Genschel Janine,
Schmidt Hartmut H.J.
Publication year - 2000
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/1098-1004(200012)16:6<451::aid-humu1>3.0.co;2-9
Subject(s) - lmna , lamin , genetics , muscular dystrophy , biology , progeria , missense mutation , emerin , cardiomyopathy , exon , dilated cardiomyopathy , nuclear lamina , lipodystrophy , mutation , limb girdle muscular dystrophy , gene , medicine , nuclear protein , transcription factor , heart failure , virus , antiretroviral therapy , viral load
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. Hum Mutat 16:451–459, 2000. © 2000 Wiley‐Liss, Inc.