TAS2R31 – Autism Spectrum Disorder

A recent genetic study using whole exome sequencing in monozygotic twins with autism spectrum disorder (PMID:39038432) identified rare and potentially pathogenic variants in several candidate genes including TAS2R31. In that study, five twins (with four concordantly affected) and their parents were analyzed, and variants of various classes (homozygous recessive, compound heterozygous, and de novo) were reported. Specifically for TAS2R31, a reported variant such as c.100G>A (p.Gly34Ser) was identified in affected individuals, although detailed segregation data are limited with only three additional affected relatives showing variant co‑segregation (PMID:39038432). The evidence so far comes from a single cohort without replication in independent studies, which constrains broader clinical assertions.

Functional studies on TAS2R31 have mainly characterized its role in bitter taste perception and receptor signaling, and none have yet demonstrated a direct mechanistic link between TAS2R31 dysfunction and autism spectrum disorder. As such, the experimental data do not currently reinforce a pathogenic role of TAS2R31 in ASD. In summary, while the genetic findings suggest a potential contribution of TAS2R31 variants to ASD, the overall gene‑disease evidence remains limited. Key take‑home: Additional robust genetic and functional studies are needed before TAS2R31 can be reliably used for diagnostic decision‑making in autism spectrum disorder.

References

• Pediatric neurology • 2024 • Rare Pathogenic Variants Identified in Whole Exome Sequencing of Monozygotic Twins With Autism Spectrum Disorder PMID:39038432

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