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. 2018 Apr 12;102(5):744–759. doi: 10.1016/j.ajhg.2018.02.021

Figure 1.

Figure 1

RORA Variants Cause Intellectual Disability with Autistic Features or Cerebellar Hypoplasia

(A) Schematic of RORα isoform a (GenBank: NP_599023.1; encoded by RORA transcript 1) depicting exons (black outlined boxes with numbers 1–10) and domains; green, DNA binding domain (DBD); orange, ligand binding domain (LBD). Missense variants (top) and truncating variants (bottom) are shown.

(B) Autosomal-dominant pedigree (family 10) in which a ∼1.5 Mb intergenic deletion containing RORA segregates with disease. Filled shapes, affected individuals; unfilled shapes, healthy individuals. Individuals 10A, 10B, 10C, 10D, and the spouse of 10C were tested.

(C) Schematic depicting the RORA locus at 15q22. Zoomed region shows two intergenic deletions (individuals 10A–D and individual 11), one intragenic deletion (individual 12), and an intragenic duplication (individual 13) involving RORA. Genes are indicated by black bars; copy number loss, red; copy number gain, blue.