The laminopathies: a clinical review.
The laminopathies are a diverse group of conditions caused by mutations in the LMNA gene (MIM*150330). LMNA encodes the nuclear envelope proteins lamin A and lamin C by utilization of an alternative splice site in exon 10. The human LMNA gene was identified in 1986 but it was another 13 years before it was found to be the causative gene for a disease, namely Emery Dreifuss muscular dystrophy. Since then, a further eight clearly defined phenotypes have been associated with LMNA mutations. The diversity of these phenotypes is striking with features such as premature ageing, axonal neuropathy, lipodystrophy and myopathy being seen. These phenotypes and the emerging genotype/phenotype correlations are the subject of this review.
Rankin
J
J
Department of Clinical Genetics, Royal Devon & Exeter NHS Foundation Trust, Exeter, UK. julia.rankin@rdehc-tr.swest.nhs.uk
Ellard
S
S
D000015:Abnormalities, Multiple / Q000235:genetics; D030981:Acro-Osteolysis / Q000235:genetics; D017398:Alternative Splicing; D002311:Cardiomyopathy, Dilated / Q000235:genetics; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics; D005838:Genotype; D006801:Humans; D034904:Lamin Type A / Q000235:genetics* / Q000502:physiology; D008060:Lipodystrophy / Q000235:genetics; D008334:Mandible / Q000002:abnormalities; D020389:Muscular Dystrophy, Emery-Dreifuss / Q000235:genetics; D009154:Mutation; D009685:Nuclear Envelope / Q000378:metabolism; D010641:Phenotype; D011371:Progeria / Q000235:genetics; D012868:Skin Abnormalities / Q000235:genetics
C494847:LMNA protein, human; D034904:Lamin Type A; C440308:lamin C