title: X-linked Dystonia-Parkinsonism manifesting in a female patient due to atypical turner syndrome.
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.
authors: Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.
authors: Ana
authors: A
authors: Westenberger
authors: Raymond L
authors: RL
authors: Rosales
authors: Sascha
authors: S
authors: Heinitz
authors: Karen
authors: K
authors: Freimann
authors: Lilian V
authors: LV
authors: Lee
authors: Roland D
authors: RD
authors: Jamora
authors: Arlene R
authors: AR
authors: Ng
authors: Aloysius
authors: A
authors: Domingo
authors: Katja
authors: K
authors: Lohmann
authors: Uwe
authors: U
authors: Walter
authors: Uta
authors: U
authors: Gölnitz
authors: Arndt
authors: A
authors: Rolfs
authors: Inga
authors: I
authors: Nagel
authors: Gabriele
authors: G
authors: Gillessen-Kaesbach
authors: Reiner
authors: R
authors: Siebert
authors: Dirk
authors: D
authors: Dressler
authors: Christine
authors: C
authors: Klein
mesh_terms: D041321:Chromosomes, Human, X; D020821:Dystonic Disorders; D005260:Female; D040181:Genetic Diseases, X-Linked; D005820:Genetic Testing; D051548:Histone Acetyltransferases / Q000235:genetics; D006801:Humans; D008875:Middle Aged; D035381:TATA-Binding Protein Associated Factors / Q000235:genetics; D035362:Transcription Factor TFIID / Q000235:genetics; D014424:Turner Syndrome / Q000150:complications* / Q000235:genetics*
chemical_list: D035381:TATA-Binding Protein Associated Factors; D035362:Transcription Factor TFIID; D051548:Histone Acetyltransferases; C069001:TATA-binding protein associated factor 250 kDa