Expanding the Phenotype of TUBB2A-Related Tubulinopathy: Three Cases of a Novel, Heterozygous TUBB2A Pathogenic Variant p.Gly98Arg
| العنوان: | Expanding the Phenotype of TUBB2A-Related Tubulinopathy: Three Cases of a Novel, Heterozygous TUBB2A Pathogenic Variant p.Gly98Arg |
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| المؤلفون: | 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 |
| المصدر: | Molecular Syndromology. 12:33-40 |
| بيانات النشر: | S. Karger AG, 2020. |
| سنة النشر: | 2020 |
| مصطلحات موضوعية: | 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 |
| الوصف: | 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. |
| تدمد: | 1661-8777 1661-8769 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_________::fe676ff712ab10a9a4304e63cac4defdTest https://doi.org/10.1159/000512160Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi...........fe676ff712ab10a9a4304e63cac4defd |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 16618777 16618769 |
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