A G613A missense in the Hutchinson’s progeria lamin A/C gene causes a lone, autosomal dominant atrioventricular block

A G613A missense in the Hutchinson’s progeria lamin A/C gene causes a lone, autosomal dominant atrioventricular block

Immunity & Ageing, November 2014

25469153

Francesco Villa, Anna Maciąg, Chiara C Spinelli, Anna Ferrario, Albino Carrizzo, Attilio Parisi, Annalaura Torella, Chiara Montenero, Gianluigi Condorelli, Carmine Vecchione, Vincenzo Nigro, Annibale S Montenero, Annibale A Puca

LMNA/C mutations have been linked to the premature aging syndrome Hutchinson's progeria, dilated cardiomyopathy 1A, skeletal myopathies (such as the autosomal dominant variant of Emery-Dreifuss muscular dystrophy and limb-girdle muscular dystrophy), Charcot-Marie-Tooth disorder type 2B1, mandibuloacral dysplasia, autosomal dominant partial lipodystrophy, and axonal neuropathy. Atrioventricular block (AVB) can be associated with several cardiac disorders and it can also be a highly heritable, primitive disease. One of the most common pathologies associated with AVB is dilated cardiomyopathy (DCM), which is characterized by cardiac dilatation and reduced systolic function. In this case, onset has been correlated with several mutations in genes essential for the proper maturation of cardiomyocytes, such as the gene for lamin A/C. However, no clear genotype-phenotype relationship has been reported to date between LMNA/C mutations and cardiomyopathies.