biostudies-literatureDharmaraj TNIA NIH HHSNational Institutes of Health48https://www.ebi.ac.uk/biostudies/studies/S-EPMC6459885biostudies-literatureUnknown7Emerin (<i>EMD</i>) and barrier to autointegration factor 1 (<i>BANF1</i>) each bind A-type lamins (<i>LMNA</i>) as fundamental components of nuclear lamina structure. Mutations in <i>LMNA</i>, <i>EMD</i> and <i>BANF1</i> are genetically linked to many tissue-specific disorders including Emery-Dreifuss muscular dystrophy and cardiomyopathy (<i>LMNA</i>, <i>EMD</i>), lipodystrophy, insulin resistance and type 2 diabetes (<i>LMNA</i>) and progeria (<i>LMNA</i>, <i>BANF1</i>). To explore human genetic variation in these genes, we analyzed <i>EMD</i> and <i>BANF1</i> alleles in the Exome Aggregation Consortium (ExAC) cohort of 60,706 unrelated individuals. We identified 13 rare heterozygous BANF1 missense variants (p.T2S, p.H7Y, p.D9N, p.S22R, p.G25E, p.D55N, p.D57Y, p.L63P, p.N70T, p.K72R, p.Frontiers in cell and developmental biologyRare <i>BANF1</i> Alleles and Relatively Frequent <i>EMD</i> Alleles Including 'Healthy Lipid' Emerin p.D149H in the ExAC Cohort.PMC6459885P30 AG021334NIA P30AG021334Guan YLiu JWilson KLBadens CGaborit BDharmaraj TfalseRare <i>BANF1</i> Alleles and Relatively Frequent <i>EMD</i> Alleles Including 'Healthy Lipid' Emerin p.D149H in the ExAC Cohort.Emerin (<i>EMD</i>) and barrier to autointegration factor 1 (<i>BANF1</i>) each bind A-type lamins (<i>LMNA</i>) as fundamental components of nuclear lamina structure. Mutations in <i>LMNA</i>, <i>EMD</i> and <i>BANF1</i> are genetically linked to many tissue-specific disorders including Emery-Dreifuss muscular dystrophy and cardiomyopathy (<i>LMNA</i>, <i>EMD</i>), lipodystrophy, insulin resistance and type 2 diabetes (<i>LMNA</i>) and progeria (<i>LMNA</i>, <i>BANF1</i>). To explore human genetic variation in these genes, we analyzed <i>EMD</i> and <i>BANF1</i> alleles in the Exome Aggregation Consortium (ExAC) cohort of 60,706 unrelated individuals. We identified 13 rare heterozygous BANF1 missense variants (p.T2S, p.H7Y, p.D9N, p.S22R, p.G25E, p.D55N, p.D57Y, p.L63P, p.N70T, p.K72R, p.2019-01-01T00:00:00Z20192026-04-07T20:20:12.227Z2025-05-31T23:17:32.623ZS-EPMC64598853102491010.3389/fcell.2019.00048