Figure 3.

Pedigrees of Families with ASD-Relevant Genetic Variants

(A–F) Families with de novo deleterious variants as potential causal events.

(G–P) Families with inherited deleterious variants as potential causes of ASD (the sibling in Family A was also found to be a mutation carrier, suggesting gonadal mosaicism).

The de novo or inherited variant alleles are shown below each family member. “+” indicates the allele containing the reference (presumably wild-type) sequence (“+/+” for genes on the autosomal chromosome or the X chromosome in female; “+” for genes on the X chromosome in male). Males are denoted by squares and females by circles. Symbols with no inside number indicate that no DNA sample was available for testing. Black symbols indicate individuals diagnosed with ASD. Individual 2-1269-03 (dark gray symbol) was diagnosed with Asperger disorder in adulthood. Symbols filled in light gray (2-1186-04 [A; II-2] and 2-1116-04 [M; II-1]) denote individuals with subclinical features of ASD. As discussed in the Results, individual 2-1269-04 (G; III-2) was also reported by the parents to exhibit autistic-like behavior, and a full ASD evaluation is ongoing. Open symbols denote unaffected individuals, according to currently available information, but status for some may change upon retrospective evaluation. Arrows indicate ASD probands in each family.