Pathogenic variants in TUBB4A are not found in primary dystonia.

ABSTRACT:

Objective

To determine the contribution of TUBB4A, recently associated with DYT4 dystonia in a pedigree with "whispering dysphonia" from Norfolk, United Kingdom, to the etiopathogenesis of primary dystonia.

Methods

High-resolution melting and Sanger sequencing were used to inspect the entire coding region of TUBB4A in 575 subjects with primary laryngeal, segmental, or generalized dystonia.

Results

No pathogenic variants, including the exon 1 variant (c.4C>G) identified in the DYT4 whispering dysphonia kindred, were found in this study.

Conclusion

The c.4C>G DYT4 mutation appears to be private, and clinical testing for TUBB4A mutations is not justified in spasmodic dysphonia or other forms of primary dystonia. Moreover, given its allelic association with leukoen

SUBMITTER: Vemula SR 

PROVIDER: S-EPMC4001202 | biostudies-literature | 2014 Apr

REPOSITORIES: biostudies-literature