Highly reduced penetrance in a family with a THAP1 nonsense mutation: Role of THAP1 expression?

Parkinsonism Relat Disord. 2019 Aug:65:274-276. doi: 10.1016/j.parkreldis.2019.05.036. Epub 2019 May 25.

Authors

Marija Dulovic-Mahlow¹, Agata Gajos², Hauke Baumann¹, Jelena Pozojevic³, Frank J Kaiser³, Andrzej Bogucki², Katja Lohmann⁴

Affiliations

¹ Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.
² Department of Extrapyramidal Diseases, Medical University of Lodz, Lodz, Poland.
³ Institute of Human Genetics, University of Lübeck, Lübeck, Germany.
⁴ Institute of Neurogenetics, University of Lübeck, Lübeck, Germany. Electronic address: katja.lohmann@neuro.uni-luebeck.de.

PMID: 31153764
DOI: 10.1016/j.parkreldis.2019.05.036

No abstract available

Keywords: Dystonia; Nonsense mutation; Nonsense-mediated mRNA decay; Reduced penetrance; THAP1.

Publication types

Case Reports
Letter
Research Support, Non-U.S. Gov't

MeSH terms

Adult
Aged
Aged, 80 and over
Apoptosis Regulatory Proteins / genetics*
Apoptosis Regulatory Proteins / metabolism
Codon, Nonsense
DNA-Binding Proteins / genetics*
DNA-Binding Proteins / metabolism
Dystonic Disorders / genetics*
Dystonic Disorders / physiopathology*
Female
Gene Expression / genetics
Heterozygote
Humans
Male
Middle Aged
Pedigree
Penetrance
Young Adult

Substances

Apoptosis Regulatory Proteins
Codon, Nonsense
DNA-Binding Proteins
THAP1 protein, human