Fig. 2

p.T10I LMNA mutation disrupts nuclear structure. a Integrated Genomics Viewer (IGV) screenshot of 130 bp paired-end whole exome sequencing reads, represented by horizontal gray bars, demonstrated a single nucleotide change (C to T) at genomic position of chromosome 1 g.156,084,738 (GRCh37/hg19) resulting in a missense alteration at codon 29 of LMNA replacing a threonine (T) with an isoleucine (I): NM_170707.3(LMNA):c.29C > T (p.T10I) (b) Skin fibroblast cell cultures of our patient with heterozygous p.T10I LMNA mutation and a Duchenne muscular dystrophy patient were analyzed by immunoflourescence using an antibody to lamin A. Cell cultures were stained with primary lamin A antibody, followed by 4′,6-diamidino-2 phenylindole (DAPI) nuclear staining and with the Alexa 488 goat anti-rabbit IgG. Scale bar: 200 μm. c Higher magnification images of the nuclear staining shown in (b); scale bar: 50 μm. Arrows in panel (b) indicate fragmented nuclei; arrows in panel (c) indicate examples of atypically shaped nuclei and/or nuclei with ruffles of lamin A staining