Relevance to Autism

TCEAL1 has previously been proposed to be a candidate gene for a neurological disease trait associated with Xq22.2 deletions in females consisting of hypotonia, intellectual disability, neurobehavioral abnormalities, and mildly dysmorphic facial features (Hijazi et al., 2020). Applying a gene-first approach and worldwide gene-matching, Hijazi et al., 2022 identified eight individuals with variants in the TCEAL1 gene presenting with a neurodevelopmental syndrome that overlapped with that described in females with Xq22.2 deletions, implicating TCEAL1 as the driver gene; individuals with TCEAL1 variants presented with a more-defined syndrome characterized by hypotonia, abnormal gait, developmental delay/intellectual disability, autistic behavior, and mildly dysmorphic facial features. A de novo frameshift variant in the TCEAL1 gene was also identified in a female ASD proband from the SPARK cohort in Zhou et al., 2022.

Molecular Function

This gene encodes a member of the transcription elongation factor A (SII)-like (TCEAL) gene family. Members of this family may function as nuclear phosphoproteins that modulate transcription in a promoter context-dependent manner. The encoded protein is similar to transcription elongation factor A/transcription factor SII and contains a zinc finger-like motif as well as a sequence related to the transcription factor SII Pol II-binding region. It may exert its effects via protein-protein interactions with other transcriptional regulators rather than via direct binding of DNA.

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