Figure 1
The five-generation family affected with syndromic X-linked intellectual disability (XLID) and the architecture of the TAF1 gene with missense variants associated with intellectual disability. (A) Six males, in the same five-generation family, were initially diagnosed with syndromic intellectual disability. Seventeen family members were genotyped (wt = wild-type, *=variant carrier). (B) Photographs show clinical features of the six affected males who presented with a long face, pointed chin, prominent forehead, long philtrum, prominent supraorbital ridge, deep-set eyes, and low-set, protruding, large ears. (C) Schematic view of TAF1 gene and corresponding protein with domains. Germline missense variants associated with intellectual disability are shown above the schematic (black). The likely pathogenic missense variant presented in this report, TAF1 c.3568C>T, p.(Arg1190Cys), is marked in bold. Light grey bars mark somatic variants reported in the Cosmic cancer database. Domains of TAF1 are kinase domain 1 (amino acid residues 1–414, red) and 2 (residues 1,425–1,872, red), TBP-binding domain (residues 1–140, purple), HAT domain (residues 600–1,009, blue), RAP74-interacting domain (residues 1,110–1,236, pink), and bromodomains 1 and 2 (residues 1,359–1,638, green)34,59.
