Open AccessFunctional Characterization of a Novel Truncating Mutation in Lamin A/C Gene in a Family with a Severe Cardiomyopathy with Conduction Defects
Author(s) -
Andrea Gerbino,
Irene Bottillo,
Serena Milano,
Martina Lipari,
Roberta De Zio,
Silvia Morlino,
M Mola,
Giuseppe Procino,
Federica Re,
Elisabetta Zachara,
Paola Grammatico,
María Svelto,
Monica Carmosino
Publication year - 2017
Publication title -
cellular physiology and biochemistry
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.486
H-Index - 87
eISSN - 1421-9778
pISSN - 1015-8987
DOI - 10.1159/000485651
Subject(s) - lmna , hek 293 cells , transfection , microbiology and biotechnology , biology , lamin , connexin , wnt signaling pathway , cell culture , signal transduction , genetics , gap junction , intracellular , nucleus
Truncating LMNA gene mutations occur in many inherited cardiomyopathy cases, but the molecular mechanisms involved in the disease they cause have not yet been systematically investigated. Here, we studied a novel frameshift LMNA variant (p.D243Gfs*4) identified in three members of an Italian family co-segregating with a severe form of cardiomyopathy with conduction defects.