Fig. 1

Variant analysis of both individuals. a-c Analysis of Individual 1 variant - c.6954 + 3A > C. a Sequence analysis of exon 40 and intron 40 of the NIPBL gene. The wild-type control (top panel) and Individual 1 (bottom panel). The mutation is marked with a circle. b Sequence analysis of cDNA NIPBL gene. The wild-type control (top panel) and the bottom panel exhibit an in-frame deletion of exon 40 of NIPBL gene in Individual 1. c NIPBL protein alignment of the wild-type control (top panel) and the bottom panel of Individual 1 exhibit protein truncation and loss of H5 domain. d-f Analysis of Individual 2 variant - c.5862 + 1delG. d Sequence analysis of exon 32 and intron 32 of the NIPBL gene. The wild-type control (top panel) and Individual 2 (bottom panel). The mutation is marked with a circle. e Sequence analysis of cDNA NIPBL gene. The wild-type control (top panel) and the bottom panel exhibit an in-frame insertion of 40 nucleotides of intron 32 of NIPBL gene in Individual 2. f NIPBL protein alignment of the wild-type control (top panel) and he bottom panel of Individual 2 exhibit protein truncation and loss of H3, H4, and H5 domains