Novel heterozygous truncating variant in TUBB associated with thrombocytopaenia and neurological abnormalities

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12 Nov 2026 0 comments

CONCLUSIONS: This study associates the novel heterozygous truncating p.Ile210AsnfsTer40 variant in TUBB with a multisystem disorder characterized by haematological and neurological manifestations, expanding the phenotypic spectrum of TUBB-related diseases. Our findings indicate that reduced protein stability and functional impairment of β-tubulin represent key pathogenic mechanisms underlying this condition. Lastly, our experimental evidence further supports the implication of TUBB dysfunctions...