Fig. 2: Pedigrees and genetic characterization of six families with congenital ocular motor apraxia carrying heterozygous loss-of-function variants in SUFU. | Genetics in Medicine

Fig. 2: Pedigrees and genetic characterization of six families with congenital ocular motor apraxia carrying heterozygous loss-of-function variants in SUFU.

From: Heterozygous truncating variants in SUFU cause congenital ocular motor apraxia

Fig. 2

(a) Pedigrees of families 1–6 showing segregation of rare deleterious SUFU variants. Unfilled shapes denote healthy, filled shapes affected individuals. (b) Chromatograms of the identified SUFU variants in family 1 (F1: c.83C>A; p.Ser28*), family 2 (F2: c.1099G>T; p.Glu367*), family 3 (F3: c.479delA; p.His160Leufs*20), family 4 (F4: c.1220_1221insT; p.Phe408Valfs*13), family 5 (F5: c.309_310delAG; p.Arg103Serfs*3), and family 6 (F6: c.1333dupG; p.Glu445Glyfs*22) compared with wild-type (WT) sequences of the respective positions. Localization of frameshift or nonsense variants is indicated in red.

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