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Rapid Communication | Open Access

A novel homozygous missense variant in ARSK causes MPS X, a new subtype of mucopolysaccharidosis

Miao Suna( ), Cornelia K. Kaminskyb, Philip Deppec, Mai-Britt Ilsec, Frédéric M. Vazd,e,f, Barbara Pleckog, Torben Lübkec, Linda M. Randolphh( )
Division of Genomic Medicine, Department of Pathology and Laboratory Medicine, Children’s Hospital Los Angeles/Keck School of Medicine of USC, Los Angeles, CA 90027, USA
Department of Radiology, Children’s Hospital Los Angeles/Keck School of Medicine of USC, Los Angeles, CA 90027, USA
Department of Chemistry, Biochemistry, Bielefeld University, Bielefeld 33615, Germany
Amsterdam UMC Location University of Amsterdam, Department of Clinical Chemistry and Pediatrics, Laboratory Genetic Metabolic Diseases, Emma Children’s Hospital, Meibergdreef 9, Amsterdam 1100 DE, the Netherlands
Amsterdam Gastroenterology Endocrinology Metabolism, Inborn Errors of Metabolism, Amsterdam 1105 BK, the Netherlands
Core Facility Metabolomics, Amsterdam UMC Location University of Amsterdam, Amsterdam 1100 DD, the Netherlands
Department of Pediatrics, Division of General Pediatrics, Medical University of Graz, Graz 8036, Austria
Division of Medical Genetics, Department of Pediatrics, Children’s Hospital Los Angeles/Keck School of Medicine of USC, Los Angeles, CA 90027, USA

Peer review under responsibility of Chongqing Medical University.

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Genes & Diseases
Volume 11 Issue 3,
May 2024
Article number: 101025
DOI: 10.1016/j.gendis.2023.06.003

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Cite this article:
Sun M, Kaminsky CK, Deppe P, et al. A novel homozygous missense variant in ARSK causes MPS X, a new subtype of mucopolysaccharidosis. Genes & Diseases, 2024, 11(3): 101025. https://doi.org/10.1016/j.gendis.2023.06.003

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Received: 21 March 2023
Published: 10 July 2023
© 2023 The Authors.

This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).