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

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

doi:10.1002/mds.25369

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

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

^*Corresponding author for this work

7 Citations (Scopus)

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.

Original language	English
Journal	Movement Disorders
Volume	28
Issue number	5
Pages (from-to)	675-678
Number of pages	4
ISSN	0885-3185
DOIs	https://doi.org/10.1002/mds.25369
Publication status	Published - 15.04.2013

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

Access to Document

10.1002/mds.25369

Cite this

Westenberger, A., Rosales, R. L., Heinitz, S., Grütz, K., Lee, L. V., Jamora, R. D., Ng, A. R., Domingo, A., Lohmann, K., Walter, U., Gölnitz, U., Rolfs, A., Nagel, I., Gillessen-Kaesbach, G., Siebert, R., Dressler, D., & Klein, C. (2013). X-linked Dystonia-Parkinsonism manifesting in a female patient due to atypical turner syndrome. Movement Disorders, 28(5), 675-678. https://doi.org/10.1002/mds.25369

@article{0579acdc36c040439712a775f2a8aae7,

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.",

author = "Ana Westenberger and Rosales, {Raymond L.} and Sascha Heinitz and Karen Gr{\"u}tz and Lee, {Lilian V.} and Jamora, {Roland D.} and Ng, {Arlene R.} and Aloysius Domingo and Katja Lohmann and Uwe Walter and Uta G{\"o}lnitz and Arndt Rolfs and Inga Nagel and Gabriele Gillessen-Kaesbach and Reiner Siebert and Dirk Dressler and Christine Klein",

year = "2013",

month = apr,

day = "15",

doi = "10.1002/mds.25369",

language = "English",

volume = "28",

pages = "675--678",

journal = "Movement Disorders",

issn = "0885-3185",

number = "5",

}

Westenberger, A, Rosales, RL, Heinitz, S, Grütz, K, Lee, LV, Jamora, RD, Ng, AR, Domingo, A, Lohmann, K, Walter, U, Gölnitz, U, Rolfs, A, Nagel, I, Gillessen-Kaesbach, G, Siebert, R, Dressler, D & Klein, C 2013, 'X-linked Dystonia-Parkinsonism manifesting in a female patient due to atypical turner syndrome', Movement Disorders, vol. 28, no. 5, pp. 675-678. https://doi.org/10.1002/mds.25369

TY - JOUR

T1 - X-linked Dystonia-Parkinsonism manifesting in a female patient due to atypical turner syndrome

AU - Westenberger, Ana

AU - Rosales, Raymond L.

AU - Heinitz, Sascha

AU - Grütz, Karen

AU - Lee, Lilian V.

AU - Jamora, Roland D.

AU - Ng, Arlene R.

AU - Domingo, Aloysius

AU - Lohmann, Katja

AU - Walter, Uwe

AU - Gölnitz, Uta

AU - Rolfs, Arndt

AU - Nagel, Inga

AU - Gillessen-Kaesbach, Gabriele

AU - Siebert, Reiner

AU - Dressler, Dirk

AU - Klein, Christine

PY - 2013/4/15

Y1 - 2013/4/15

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=84877922177&partnerID=8YFLogxK

U2 - 10.1002/mds.25369

DO - 10.1002/mds.25369

M3 - Journal articles

C2 - 23389859

AN - SCOPUS:84877922177

SN - 0885-3185

VL - 28

SP - 675

EP - 678

JO - Movement Disorders

JF - Movement Disorders

IS - 5

ER -

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

Abstract

UN SDGs

Access to Document

Other files and links

Fingerprint

Cite this