Expanding the Phenotype Spectrum of β-Mannosidosis
Genotype-phenotype correlation in β-mannosidosis remains elusive, likely due to phenotypic variability, disease rarity, and lack of association between the enzyme activity and the clinical severity. Modifier genes in the N-glycan degradation pathway, such as <i>CTBS</i>, may influence disease expression. β-mannosidosis should be considered as a differential diagnosis in patients with syndromic or apparently nonsyndromic hearing loss, unexplained brain hypomyelination, behavioral disturbances, and intellectual disability.
Authors
- Karolina M. Stępień (ORCID: https://orcid.org/0000-0003-0148-6332)
- Liliane Gibbs (ORCID: https://orcid.org/0009-0001-9447-2329)
- Angela M. Martin Rios
- Nishitha R. Pillai (ORCID: https://orcid.org/0000-0002-2943-2136)
- Raymond Wang (ORCID: https://orcid.org/0000-0001-6494-7613)
- Troy C. Lund (ORCID: https://orcid.org/0000-0001-9174-8919)
- Gisele Pino (ORCID: https://orcid.org/0000-0001-8529-6135)
- Paul J. Orchard (ORCID: https://orcid.org/0000-0001-9426-1292)
- Virginia Kimonis (ORCID: https://orcid.org/0000-0003-1567-4449)
- Patricia Hall (ORCID: https://orcid.org/0000-0001-9218-6233)
- Kerstin Hall (ORCID: https://orcid.org/0000-0002-6691-2251)
Institutions
- University of Minnesota (US)
- Children's Hospital of Orange County (US)
- University of California, Irvine (US)
- Salford Royal NHS Foundation Trust (GB)
- University of California, Irvine Medical Center (US)
- Institut thématique Génétique, génomique et bioinformatique (FR)
Publication Details
- Journal
- Neurology Genetics
- Published
- 2025-11-07
- DOI
- https://doi.org/10.1212/nxg.0000000000200317
- Primary Topic
- Lysosomal Storage Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00