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

Westenberger, Ana ; Rosales, Raymond L ; Heinitz, Sascha ; Freimann, Karen ; Lee, Lilian V ; Jamora, Roland D ; Ng, Arlene R ; Domingo, Aloysius ; Lohmann, Katja ; Walter, Uwe ; Gölnitz, Uta ; Rolfs, Arndt ; Nagel, Inga ; Gillessen‐Kaesbach, Gabriele ; Siebert, Reiner ; Dressler, Dirk ; Klein, Christine

Movement disorders, 2013-05, Vol.28 (5), p.675-678 [Peer Reviewed Journal]

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Title:
X‐linked Dystonia‐Parkinsonism manifesting in a female patient due to atypical turner syndrome
Author/Creator: Westenberger, Ana ; Rosales, Raymond L ; Heinitz, Sascha ; Freimann, Karen ; Lee, Lilian V ; Jamora, Roland D ; Ng, Arlene R ; Domingo, Aloysius ; Lohmann, Katja ; Walter, Uwe ; Gölnitz, Uta ; Rolfs, Arndt ; Nagel, Inga ; Gillessen‐Kaesbach, Gabriele ; Siebert, Reiner ; Dressler, Dirk ; Klein, Christine
Publisher: United States: Wiley Subscription Services, Inc
Language: English
Subjects: gene and chromosome copy‐number analysis ; DYT3 ; genotype‐phenotype correlation ; Turner syndrome ; XDP ; X‐linked dystonia‐parkinsonism ; Chromosomes, Human, X ; Transcription Factor TFIID - genetics ; Genetic Testing ; Humans ; Middle Aged ; Dystonic Disorders ; Histone Acetyltransferases - genetics ; Turner Syndrome - complications ; Turner Syndrome - genetics ; Female ; Genetic Diseases, X-Linked ; TATA-Binding Protein Associated Factors - genetics ; Women ; Parkinson's disease ; Gene mutations ; Analysis ; Genes ; Cytogenetics ; Universities and colleges ; Dystonia ; Health aspects ; Index Medicus
Is Part Of: Movement disorders, 2013-05, Vol.28 (5), p.675-678
Description: 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
Notes: Full financial disclosures and author roles may be found in the online version of this article.
Nothing to report.
Relevant conflicts of interest/financial disclosures
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).
Funding agencies
Identifier: ISSN: 0885-3185
EISSN: 1531-8257
DOI: 10.1002/mds.25369
PMID: 23389859

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