MRTFB and Autism

Candidate gene screening studies in autism have intermittently included MRTFB among a panel of genes evaluated at the 16p11-13 locus. In one study, seven nonsynonymous variants were identified across multiple candidate genes in a cohort of multiplex families; although five of these changes cosegregated with autism, the variants were not predicted to be deleterious and thus provided only limited support for a pathogenic role (PMID:15830322). A subsequent European study of autism spectrum disorders also evaluated MRTFB, but the statistical evidence for its involvement remained inconclusive (PMID:20442744).

Functional assessments of MRTFB isoforms have demonstrated that alterations in expression can affect neuronal dendritic complexity, suggesting a role in neurodevelopment (PMID:32639614). Despite these biological insights, there is a significant gap linking these functional perturbations directly to autism phenotypes. Overall, the genetic evidence in combination with experimental observations supports only a limited association between MRTFB and autism (MONDO_0005260). Key take‑home sentence: Although preliminary genetic and functional findings hint at a role for MRTFB in neuronal development, the current evidence is insufficient to establish its clinical utility in autism diagnostics.

References

• American journal of human genetics • 2005 • Candidate-gene screening and association analysis at the autism‑susceptibility locus on chromosome 16p PMID:15830322
• European journal of human genetics • 2010 • Linkage and candidate gene studies of autism spectrum disorders in European populations PMID:20442744
• Journal of neurochemistry • 2021 • Expression of SOLOIST/MRTFB i4, a novel neuronal isoform of the mouse serum response factor coactivator myocardin‑related transcription factor‑B, negatively regulates dendritic complexity in cortical neurons PMID:32639614

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