Figure 1.

SCAF4 Variants Observed in Individuals with NDDs

(A) Schematic drawing of SCAF4 (longest isoform GenBank: NM_020706.2) with identified variants. Non-coding exonic regions are displayed in white, coding exons in gray, and encoded domains (according to Ensembl¹²) in color.

(B) Schematic drawing of the SCAF4 protein. One missense and eight likely gene-disrupting variants (excluding two splice-site variants) are displayed below the scheme. Variants of unknown significance are shaded in gray.

(C) Clinical pictures of individuals with pathogenic variants in SCAF4 (I1 at age 3 and 5 years; I2 at age 20 months; I5 at age 13 years; I6 at age 6.5 years; I9 at age 9 years). Note common facial features such as epicanthus, a deep nasal bridge, bulbous nasal tip, and deep philtrum, particularly in I1 and I2.

Abbreviations: CID, conserved CTD-interacting domain; SR, Ser/Arg-rich domain; RRM, RNA recognition motif; PQ, Pro/Gln-rich domain.