Expanding the Phenotype of < b > < i > TUBB2A < /i > < /b > -Related Tubulinopathy: Three Cases of a Novel, Heterozygous < b > < i > TUBB2A < /i > < /b > Pathogenic Variant p.Gly98Arg

We report 3 patients identified by exome and genome sequencing to have a novel, pathogenic, missense variant inTUBB2A (p.Gly98Arg). They presented similarly with intellectual disability, hypotonia, and global developmental delay and varied with respect to the type of cortical brain malformation, seizure history, diagnosis of autism spectrum disorder, and other features. This case series expands the natural history ofTUBB2A-related tubulinopathy while describing the presentation of a novel, pathogenic, missense variant in 3 patients.Mol Syndromol
Source: Molecular Syndromology - Category: Molecular Biology Source Type: research