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X-linked Dystonia-Parkinsonism manifesting in a female patient due to atypical turner syndrome

Authors


  • Funding agencies: This study was supported by Jake's Ride for Dystonia research grant through the Bachmann-Strauss Dystonia & Parkinson Foundation (to Ana Westenberger), a research grant from the Fritz Thyssen Foundation (to Ana Westenberger), a Habilitation Fellowship for Women Researchers from the University of Lübeck, Germany (to Ana Westenberger), a “Medical Excellence” Doctoral Scholarship from the University of Lübeck, Germany (to Sascha Heinitz), intramural funding from the Medical Faculty of the Christian-Albrechts-University Kiel (to Inga Nagel and Reiner Siebert), and a grant from the Hermann and Lilly Schilling Foundation (to Christine Klein).

  • Relevant conflicts of interest/financial disclosures: Nothing to report.

  • Full financial disclosures and author roles may be found in the online version of this article.

Correspondence to: Dr. Christine Klein, Institute of Neurogenetics, University of Lübeck; Ratzeburger Allee 160, 23538 Lübeck, Germany; christine.klein@neuro.uni-luebeck.de

ABSTRACT

Background

Recessive X-linked dystonia-parkinsonism almost exclusively affects men. We investigated the genetic mechanisms causing this disorder in a female patient.

Methods

We confirmed the presence of an X-linked dystonia-parkinsonism–specific change in our patient by sequencing. In addition, we employed quantitative real-time PCR and array comparative genomic hybridization to determine the patient's X-chromosome copy number.

Results

The patient's sequence electropherogram suggested a higher amount of the mutated allele compared with the wild-type allele. Subsequently, extensive gene dosage analyses revealed a copy number of the X chromosomes between 1 and 2, indicating loss of 1 X chromosome in a subset of cells. Phenotypic reevaluation of the patient showed several clinical features of Turner syndrome.

Conclusions

Our female X-linked dystonia-parkinsonism patient suffered from an undiagnosed X-chromosome monosomy in a subset of cells (45,X/46,XX), suggesting an atypical Turner syndrome and contributing the first molecular explanation for the manifestation of an X-linked dystonia-parkinsonism phenotype in women. © 2013 Movement Disorder Society

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