[Laminopathies--one gene, multiple diseases].
Laminopathies are genetic diseases that encompass a wide spectrum of phenotypes with diverse tissue pathologies and result mainly from mutations in the LMNA gene encoding nuclear lamin A/C. To date, at least 9 different human diseases, which superficially seem to share little with one another, result from LMNA mutations. The position of the mutation within LMNA appears to be associated with the phenotypes. This review gives an overview of genotype-phenotype relationship and describes recent advances in animal models and pathogenic mechanisms.
Song
Shu-juan
SJ
Department of Medical Genetics, Peking University Health Science Center, Beijing 100083, China.
Zhang
Yuan-zhi
YZ
Zhong
Nanbert
N
D000818:Animals; D002311:Cardiomyopathy, Dilated / Q000235:genetics; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics*; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics; D004195:Disease Models, Animal; D006801:Humans; D034904:Lamin Type A / Q000235:genetics*; D052496:Lipodystrophy, Familial Partial / Q000235:genetics; D020389:Muscular Dystrophy, Emery-Dreifuss / Q000235:genetics*
C494847:LMNA protein, human; D034904:Lamin Type A