Skip to main content
. 2020 Feb 27;106(3):338–355. doi: 10.1016/j.ajhg.2020.01.018

Figure 1.

Figure 1

Pathogenic TRIO Variants Found in Individuals with Neurodevelopmental Disorders

(A) Schematic representation of TRIO domains with annotated missense and nonsense mutations identified in affected individuals. Patient groups 1 and 2 are highlighted in green and orange, respectively. Missense mutation p.Pro1461Leu is in blue so that it is differentiated from the other GEFD1 mutants (see text for details). Nonsense variants are written in black. The numbers in brackets correspond to the OFC of each affected individual (+/−SD).

(B) Clinical photographs of individuals carrying an alteration in the seventh spectrin repeat domain of TRIO (group 1). Individuals 2 and 3 have the p.Arg1078Trp variant, individuals 7 and 8 have the p.Arg1078Gln variant, and individual 9 has the p.Asn1080Ile variant.17

(C) Clinical photographs of individuals carrying an alteration in the GEFD1 of TRIO (group 2 and the p.Pro1461Leu variant). Individuals 10–16 harbor the following variants: (10) p.Glu1299Lys, (11 and 12) p.Arg1428Gln, (13) p.Pro1461Thr,17 (14) p.His1469Arg, (15 and 16) p.Pro1461Leu.

(D) Clinical photographs of individuals carrying nonsense mutations: individuals 17a–17c all carry the p.Gln1489Argfs∗12 variant and are related;17 patient 17a is the daughter of individual 17b. Individuals 17b and 17c are brothers. Individuals 18, 19, and 21 carry the nonsense variants p.Gln768∗, p.Arg1620Serfs∗10, and p.Val2351Cysfs∗62, respectively.