Case Reports Journal Article Ahead of print
PubMed: 42050746 DOI: 10.1002/ajmg.a.70183
A Novel TUBB2A Variant Causing Ataxia With Preserved Ambulation Into Adulthood.
Am J Med Genet A
Authors: João Cláudio da Costa Urbano, Sérgio Roberto Pereira da Silva Júnior, Matheus Augusto Araújo Castro, Paulo Ribeiro Nóbrega, José Tarcísio Medeiros de Vasconcelos, Leandro Tavares Lucato, Fernando Kok, Fernando Freua
Affiliations
- Department of Neurology, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, São Paulo, Brazil.
- Department of Clinical Medicine, Universidade Federal Do Ceará, Fotaleza, Ceará, Brazil.
- Hospital Beneficência Portuguesa de São Paulo, São Paulo, São Paulo, Brazil.
Abstract
Pathogenic TUBB2A variants are known to cause a rare form of autosomal dominant tubulinopathy. Our aim is to expand the phenotypic spectrum of TUBB2A by documenting a milder phenotype caused by a previously unreported pathogenic variant. We report a newly diagnosed case of TUBB2A tubulinopathy with novel clinical findings of ataxia with preserved ambulation into adulthood, in addition to the already characteristic findings of global developmental delay in childhood, cortical malformations, and epilepsy. Informed consent was obtained for this publication. A 40 year-old man presented to the clinic with a history of global developmental delay, intellectual disability, myoclonic epilepsy, cerebellar ataxia and cortical malformations. We performed exome sequencing, which revealed a monoallelic variant in TUBB2A NM_001069.3: c.620 T>C;p.(Leu207Pro) classified as likely pathogenic. TUBB2A variants may cause slowly progressive ataxia along with global developmental delay and epilepsy. This case widens the phenotypical spectrum and provides a new clinical clue for physicians.
MeSH
Epilepsy, Ataxia, Genetics, Medical