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THAP1 mutations and dystonia phenotypes: genotype phenotype correlations.

Georgia Xiromerisiou¹, Henry Houlden, Nikolaos Scarmeas

¹Department of Molecular Neuroscience and Reta Lila Weston Institute, University College London Institute of Neurology, London, London, United Kingdom; Department of Neurology, Faculty of Medicine University of Thessaly, Larissa, Greece. geoksirom@med.uth.gr

Movement Disorders : Official Journal of the Movement Disorder Society

|August 21, 2012

Summary

Mutations in the THAP1 gene cause DYT6 dystonia. While clear genotype-phenotype correlations remain elusive, THAP1 mutation pathogenicity correlates with dystonia onset age and distribution.

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Area of Science:

Genetics
Neurology
Molecular Biology

Background:

The THAP1 gene is implicated in the pathogenesis of DYT6 dystonia.
Previous studies suggest a link between THAP1 mutations and varying dystonia phenotypes, but clear genotype-phenotype correlations are lacking.

Observation:

This study screened the THAP1 gene in additional dystonia cases.
Two novel THAP1 mutations were identified, adding to the known spectrum of variants.
THAP1 mutations were found distributed across the coding region, with a concentration in the THAP1 domain.

Findings:

No definitive genotype-phenotype correlation was established for THAP1 mutations.
A correlation was observed between THAP1 mutation pathogenicity, distribution, and the age of onset for dystonia.

Implications:

THAP1 mutations are a significant cause of dystonia, necessitating further investigation.
Larger mutation datasets across diverse populations and mutation-specific functional studies are crucial for understanding THAP1 pathogenicity and genotype-phenotype relationships.