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. 2021 Apr 2;108(5):929–941. doi: 10.1016/j.ajhg.2021.03.017

Figure 1.

Figure 1

Copy number variants and single nucleotide variants altering SIN3B cause intellectual disability with autistic features

(A) Schematic depicting SIN3B (GRCh37.p13; chr19: 16,940,211–16,991,164) at the 19p13.11 locus. CNV deletions (red bars) encompassing SIN3B in individuals 1, 2, 3, 4, and 5, as well as two previously reported individuals,16,17 are shown. Gene positions are indicated by black boxes, and genes located in smallest region of overlap are included in orange box between vertical dashed lines.

(B) Exon structure of longest SIN3B transcript, containing 20 exons (GenBank: NM_015260.4). Variants c.31delA (p.Ser11Alafs∗11) (individual 6); c.1579delC (p.Arg527Glyfs∗12) (individual 7); c.249C>G (p.Ile83Met) (individual 8); and c.58G>A (p.Gly20Arg) (individual 9) are indicated with red arrows.