TFB2M – Autism Spectrum Disorder

This report describes a limited gene-disease association between TFB2M and autism spectrum disorder. A rare homozygous variant, c.790C>T (p.His264Tyr), was identified in two Korean siblings with ASD (PMID:30414672). The inheritance pattern is consistent with an autosomal recessive mode, with one additional affected relative observed through sibling segregation (PMID:30414672). Genetic evidence is based on this single-family case report where the variant was detected by whole-exome sequencing, and its potential pathogenicity is further supported by experimental studies.

Functional assessments in patient-derived fibroblasts revealed augmented mitochondrial gene transcription and enhanced mitochondrial function, including increased ATP production and reactive oxygen species levels (PMID:30414672). These in vitro findings indicate that the c.790C>T (p.His264Tyr) variant may disrupt mitochondrial metabolic regulation, contributing to the disease phenotype. While current evidence is limited by the small sample size, the integrated genetic and functional data provide a basis for further investigation and potential diagnostic use.

References

• Biochemical and Biophysical Research Communications • 2018 • Identification of a rare homozygous c.790C>T variation in the TFB2M gene in Korean patients with autism spectrum disorder PMID:30414672

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