Tubulinopathy Case Series: Marked Intrafamilial Phenotypic Variability Associated With a Novel Missense TUBB Variant.
Alja Kavčič, Jernej Avsenik, Karin Writzl et al.
✦ AI-curated · Sources linked
Case in brief
A family with a novel missense variant in the TUBB gene presented with significant intrafamilial phenotypic variability. The proband exhibited severe symptoms, including seizures and developmental delay from 6 months, while the younger sibling was identified early due to abnormal cranial ultrasound. Both siblings had similar MRI findings, leading to the reclassification of the TUBB variant from uncertain significance to likely pathogenic.
What made this case unusual
The case illustrates marked intrafamilial phenotypic variability despite the same genetic mutation, highlighting the complexity of tubulinopathies.
Diagnostic / clinical pearl
Neuroimaging plays a crucial role in diagnosing tubulinopathies, as characteristic MRI findings can aid in genetic interpretation and variant classification.
Why it matters
This case underscores the importance of considering neuroimaging results in the context of genetic findings to improve diagnostic accuracy in tubulinopathies.