Fig. 1.

Biallelic mutations in ACTL6B cause recessive autism. (A) Q-Q plot showing the observed/expected number of mutations for all coding genes in the SRAC. ACTL6B and CD36 were significantly mutated. (B) Q-Q plot showing the observed/expected number of mutations for all coding genes in a genetically matched non-ASD recessive neurodevelopmental cohort, where ACTL6B was not found to be enriched. (C) ACTL6B encodes a tissue-restricted subunit of the neuronal (nBAF) BAF complex. Representation of the multisubunit nBAF complex containing ubiquitously expressed subunits (gray), a core ATPase subunit (dark blue), and neuronal-specific subunits (yellow) including ACTL6B in bold. The balls on a string represent nucleosomes. (D) Recessive ASD inheritance with ACTL6B mutations in six independent consanguineous families. Double lines, first cousin status; squares, males; circles, females; slash-through, mortality; black fill, ASD. Missense variants (green) and truncating variants (blue). Obligate carriers depicted with dot at center of symbol.