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Title:

Recessive NUP54 Variants Underlie Early-Onset Dystonia with Striatal Lesions.

Document type:
Article; Journal Article; Research Support, Non-U.S. Gov't
Author(s):
Harrer, Philip; Schalk, Audrey; Shimura, Masaru; Baer, Sarah; Calmels, Nadège; Spitz, Marie Aude; Warde, Marie-Thérèse Abi; Schaefer, Elise; Kittke, Volker M Sc; Dincer, Yasemin; Wagner, Matias; Dzinovic, Ivana; Berutti, Riccardo; Sato, Tatsuharu; Shirakawa, Toshihiko; Okazaki, Yasushi; Murayama, Kei; Oexle, Konrad; Prokisch, Holger; Mall, Volker; Melčák, Ivo; Winkelmann, Juliane; Zech, Michael
Abstract:
Infantile striatonigral degeneration is caused by a homozygous variant of the nuclear-pore complex (NPC) gene NUP62, involved in nucleo-cytoplasmic trafficking. By querying sequencing-datasets of patients with dystonia and/or Leigh(-like) syndromes, we identified 3 unrelated individuals with biallelic variants in NUP54. All variants clustered in the C-terminal protein region that interacts with NUP62. Associated phenotypes were similar to those of NUP62-related disease, including early-onset dys...     »
Journal title abbreviation:
Ann Neurol
Year:
2023
Journal volume:
93
Journal issue:
2
Pages contribution:
330-335
Fulltext / DOI:
doi:10.1002/ana.26544
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/36333996
Print-ISSN:
0364-5134
TUM Institution:
Institut für Humangenetik; Klinik und Poliklinik für Kinder- und Jugendmedizin; Lehrstuhl für Neurogenetik (N.N.)
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