DYT-TUBB4A (DYT4 Dystonia): New Clinical and Genetic Observations.

ABSTRACT:

Objective

To report 4 novel TUBB4A mutations leading to laryngeal and cervical dystonia with frequent generalization.

Methods

We screened 4 families including a total of 11 definitely affected members with a clinical picture resembling the original description.

Results

Four novel variants in the TUBB4A gene have been identified: D295N, R46M, Q424H, and R121W. In silico modeling showed that all variants have characteristics similar to R2G. The variants segregate with the disease in 3 of the families with evidence of incomplete penetrance in 2 of them. All 4 variants would be classified as likely pathogenic. The clinical picture particularly included laryngeal dystonia (often the site of onset), associated with cervical and upper limb dystonia and frequent

SUBMITTER: Bally JF 

PROVIDER: S-EPMC8105968 | biostudies-literature | 2021 Apr

REPOSITORIES: biostudies-literature