Article
Tubulinopathy Case Series: Marked Intrafamilial Phenotypic Variability Associated With a Novel Missense TUBB Variant.
American journal of medical genetics. Part A - 1 Sept 2026
Kavčič Alja, Avsenik Jernej, Writzl Karin, Stavber Lana, Bertok Sara, Debeljak Maruša, Šuštar Nataša, Maver Aleš, Velkavrh Manca, Šalamon Aneta Soltirovska
Abstract excerpt
Due to diverse clinical presentation, tubulinopathy is usually confirmed by genetic analysis. We report a family case series with a novel missense likely pathogenic variant in the TUBB gene. The proband presented with a severe clinical course, including seizures and global developmental delay starting at 6 months of age. The younger sibling was recognized in the neonatal period due to abnormal cranial ultrasound....
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