Publication: Screening study of TUBB4A in isolated dystonia.
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Date
2017-06-10
Authors
Vulinovic, Franca
Schaake, Susen
Domingo, Aloysius
Kumar, Kishore Raj
Defazio, Giovanni
Mir, Pablo
Simonyan, Kristina
Ozelius, Laurie J
Brüggemann, Norbert
Chung, Sun Ju
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Abstract
Mutations in TUBB4A have been identified to cause a wide phenotypic spectrum ranging from hereditary generalized dystonia with whispering dysphonia (DYT4) to the leukodystrophy hypomyelination syndrome with atrophy of the basal ganglia and cerebellum (H-ABC). To test for the contribution of TUBB4A mutations in different ethnicities (Spanish, Italian, Korean, Japanese), we screened 492 isolated dystonia cases for mutations in this gene and for the first time determined TUBB4A copy number variations in 336 dystonia patients. A potentially pathogenic rare 3bp-in-frame deletion was found in a patient with cervical dystonia but no copy number variations were detected in this study, suggesting that TUBB4A mutations exceedingly rarely contribute to the etiology of isolated dystonia.
Description
MeSH Terms
Adult
Age of Onset
Aged
DNA Mutational Analysis
Dystonia
Female
Genetic Association Studies
Humans
International Cooperation
Male
Middle Aged
Mutation
Tubulin
Age of Onset
Aged
DNA Mutational Analysis
Dystonia
Female
Genetic Association Studies
Humans
International Cooperation
Male
Middle Aged
Mutation
Tubulin
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Keywords
Dystonia, H-ABC, Leukodystrophy, TUBB4A