Relevance to Autism

Rare variants in the BCL11B gene are responsible for intellectual developmental disorder with dysmorphic facies, speech delay, and T-cell abnormalities (OMIM 618092), a neurodevelopmental disorder characterized by developmental delay, intellectual disability, behavioral abnormalities including autism spectrum disorder or autistic features, dysmorphic features, and immunological abnormalities (Lessel et al., 2018; Sabbagh et al., 2023). Additional rare de novo variants in the BCL11B gene, including a de novo loss-of-function variant and three de novo missense variants, have been reported in ASD probands (Satterstrom et al., 2020; Zhou et al., 2022).

Molecular Function

This gene encodes a C2H2-type zinc finger protein and is closely related to BCL11A, a gene whose translocation may be associated with B-cell malignancies. Although the specific function of this gene has not been determined, the encoded protein is known to be a transcriptional repressor, and is regulated by the NURD nucleosome remodeling and histone deacetylase complex.

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