Expanding the Phenotype of TUBB2A-Related Tubulinopathy: Three Cases of a Novel, Heterozygous TUBB2A Pathogenic Variant p.Gly98Arg
| Autor: | Maria J. Guillen Sacoto, Lindsey Schmidt, Juvianee I Estrada-Veras, Denise L. Perry, Alka Malhotra, Andres Moreno-De-Luca, Megan Bell, Karen E. Wain, Catherine Hajek, Ingrid M. Wentzensen, Amanda Clause |
|---|---|
| Rok vydání: | 2020 |
| Předmět: |
Genetics
0303 health sciences 030305 genetics & heredity Biology Cortical dysplasia medicine.disease Hypotonia 03 medical and health sciences Autism spectrum disorder medicine Autism Missense mutation Global developmental delay medicine.symptom Exome Genetics (clinical) Exome sequencing 030304 developmental biology |
| Zdroj: | Molecular Syndromology. 12:33-40 |
| ISSN: | 1661-8777 1661-8769 |
| DOI: | 10.1159/000512160 |
| Popis: | Tubulinopathies are a group of conditions caused by variants in 6 tubulin genes that present with a spectrum of brain malformations. One of these conditions is TUBB2A-related tubulinopathy. Currently, there are 9 reported individuals with pathogenic variants within the TUBB2A gene, with common manifestations including, but not limited to, global developmental delay, seizures, cortical dysplasia, and dysmorphic corpus callosum. We report 3 patients identified by exome and genome sequencing to have a novel, pathogenic, missense variant in TUBB2A (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 of TUBB2A-related tubulinopathy while describing the presentation of a novel, pathogenic, missense variant in 3 patients. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|