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Neurology Genetics
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April 2018; 4 (2) Clinical/Scientific NotesOpen Access

WDR45 mutations may cause a MECP2 mutation-negative Rett syndrome phenotype

Leonora Kulikovskaja, Adrijan Sarajlija, Dusanka Savic-Pavicevic, Valerija Dobricic, Christine Klein, Ana Westenberger
First published March 27, 2018, DOI: https://doi.org/10.1212/NXG.0000000000000227
Leonora Kulikovskaja
From the Institute of Neurogenetics (L.K., C.K., A.W.), University of Lübeck, Germany; Department of Metabolism and Clinical Genetics (A.S.), Mother and Child Health Care Institute of Serbia, Belgrade; Centre for Human Molecular Genetics (D.S.-P.), Faculty of Biology, University of Belgrade, Serbia; and Lübeck Interdisciplinary Platform for Genome Analytics (LIGA) (V.D.), University of Lübeck, Germany.
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Adrijan Sarajlija
From the Institute of Neurogenetics (L.K., C.K., A.W.), University of Lübeck, Germany; Department of Metabolism and Clinical Genetics (A.S.), Mother and Child Health Care Institute of Serbia, Belgrade; Centre for Human Molecular Genetics (D.S.-P.), Faculty of Biology, University of Belgrade, Serbia; and Lübeck Interdisciplinary Platform for Genome Analytics (LIGA) (V.D.), University of Lübeck, Germany.
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Dusanka Savic-Pavicevic
From the Institute of Neurogenetics (L.K., C.K., A.W.), University of Lübeck, Germany; Department of Metabolism and Clinical Genetics (A.S.), Mother and Child Health Care Institute of Serbia, Belgrade; Centre for Human Molecular Genetics (D.S.-P.), Faculty of Biology, University of Belgrade, Serbia; and Lübeck Interdisciplinary Platform for Genome Analytics (LIGA) (V.D.), University of Lübeck, Germany.
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Valerija Dobricic
From the Institute of Neurogenetics (L.K., C.K., A.W.), University of Lübeck, Germany; Department of Metabolism and Clinical Genetics (A.S.), Mother and Child Health Care Institute of Serbia, Belgrade; Centre for Human Molecular Genetics (D.S.-P.), Faculty of Biology, University of Belgrade, Serbia; and Lübeck Interdisciplinary Platform for Genome Analytics (LIGA) (V.D.), University of Lübeck, Germany.
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Christine Klein
From the Institute of Neurogenetics (L.K., C.K., A.W.), University of Lübeck, Germany; Department of Metabolism and Clinical Genetics (A.S.), Mother and Child Health Care Institute of Serbia, Belgrade; Centre for Human Molecular Genetics (D.S.-P.), Faculty of Biology, University of Belgrade, Serbia; and Lübeck Interdisciplinary Platform for Genome Analytics (LIGA) (V.D.), University of Lübeck, Germany.
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Ana Westenberger
From the Institute of Neurogenetics (L.K., C.K., A.W.), University of Lübeck, Germany; Department of Metabolism and Clinical Genetics (A.S.), Mother and Child Health Care Institute of Serbia, Belgrade; Centre for Human Molecular Genetics (D.S.-P.), Faculty of Biology, University of Belgrade, Serbia; and Lübeck Interdisciplinary Platform for Genome Analytics (LIGA) (V.D.), University of Lübeck, Germany.
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WDR45 mutations may cause a MECP2 mutation-negative Rett syndrome phenotype
Leonora Kulikovskaja, Adrijan Sarajlija, Dusanka Savic-Pavicevic, Valerija Dobricic, Christine Klein, Ana Westenberger
Neurol Genet Apr 2018, 4 (2) e227; DOI: 10.1212/NXG.0000000000000227

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Mutations in the autophagy-related WD domain repeat 45 (WDR45) gene cause beta-propeller protein-associated neurodegeneration (BPAN), a distinct form of neurodegeneration with brain iron accumulation (NBIA).1,2 Clinical and imaging features comprise childhood-onset global developmental delay with further regression in early adulthood, progressive dystonia, parkinsonism, stereotypies, and iron deposition in the basal ganglia. Female and the few existing male patients show similar phenotypes, probably because of somatic mosaicism in males and skewed X-chromosome inactivation (XCI) in females, as WDR45 is located on Xp11.23. To date, about 60 cases have been reported, many of whom had a different initial clinical diagnosis.3 Hyperkinetic movements and stereotypies overlap with Rett syndrome features, another X-linked disorder most commonly caused by MECP2 mutations. Indeed, for 7% of the reported cases of BPAN, the initial diagnosis was Rett syndrome,3 prompting us to perform the first mutational screen of the WDR45 gene in a large cohort of MECP2 mutation-negative Rett syndrome patients.

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  • Funding information and disclosures are provided at the end of the article. Full disclosure form information provided by the authors is available with the full text of this article at Neurology.org/NG.

  • The Article Processing Charge was funded by Land Schleswig-Holstein within the funding programme Open Access Publikationsfonds.

  • Received December 7, 2017.
  • Accepted in final form February 8, 2018.
  • Copyright © 2018 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.

This is an open access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivatives License 4.0 (CC BY-NC-ND), which permits downloading and sharing the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal.

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