UDP‐glucose dehydrogenase variants cause dystroglycanopathy

Anna M. Reelfs; Carrie M. Stephan; Theresa M. Czech; Mary O. Cox; Soumya Joseph; Benjamin W. Darbro; Steven A. Moore; Kevin P. Campbell; Katherine D. Mathews

doi:10.1002/acn3.70002

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UDP‐glucose dehydrogenase variants cause dystroglycanopathy

Journal article

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UDP‐glucose dehydrogenase variants cause dystroglycanopathy

Anna M. Reelfs, Carrie M. Stephan, Theresa M. Czech, Mary O. Cox, Soumya Joseph, Benjamin W. Darbro, Steven A. Moore, Kevin P. Campbell and Katherine D. Mathews

Annals of clinical and translational neurology, Vol.12(6), pp.1302-1308

06/2025

DOI: 10.1002/acn3.70002

PMCID: PMC12172095

PMID: 40245099

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Abstract

UDP-glucose dehydrogenase (UGDH) variants have been associated with hypotonia, developmental delay, and epilepsy. We report the first pathologic evidence of dystroglycanopathy in siblings with UGDH variants. Both presented around 6 months with developmental delay and elevated creatinine kinase. Sibling A developed epilepsy at age 9 years. Muscle biopsy from sibling A showed necrotizing myopathy with reduced matriglycan immunostaining. Western blot revealed α-dystroglycan with abnormally low molecular weight. The siblings shared pathogenic UGDH variants in trans: c.305G>A p.(R102Q) is predicted to disrupt protein structure and function; c.265-6C>G is deleterious to splicing. We propose that UGDH is an additional dystroglycanopathy gene.

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Title: Subtitle: UDP‐glucose dehydrogenase variants cause dystroglycanopathy
Creators: Anna M. Reelfs - University of Iowa Carver College of Medicine
Carrie M. Stephan - University of Iowa
Theresa M. Czech - University of Iowa, Neurology (Pediatrics)
Mary O. Cox - University of Iowa, Pathology
Soumya Joseph - University of Iowa, Molecular Physiology and Biophysics
Benjamin W. Darbro - University of Iowa, Medical Genetics and Genomics
Steven A. Moore - University of Iowa, Pathology
Kevin P. Campbell - University of Iowa, Iowa Neuroscience Institute
Katherine D. Mathews - University of Iowa, Neurology (Pediatrics)
Resource Type: Journal article
Publication Details: Annals of clinical and translational neurology, Vol.12(6), pp.1302-1308
DOI: 10.1002/acn3.70002
PMID: 40245099
PMCID: PMC12172095
NLM abbreviation: Ann Clin Transl Neurol
ISSN: 2328-9503
eISSN: 2328-9503
Publisher: Wiley
Number of pages: 7
Alternative title: UGDH Dystroglycanopathy
Language: English
Date published: 06/2025
Academic Unit: Neurology; Molecular Physiology and Biophysics; Stead Family Department of Pediatrics; Pathology; Iowa Neuroscience Institute; Medical Genetics and Genomics; Neurology (Pediatrics)
Record Identifier: 9984945442702771

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