ArticleAmerican journal of human genetics2013
Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation.
Article in American journal of human genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 73 papers.
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Who cites it
73 citing papers in PubMed, 129 citations in OpenAlex.
- Genomic analysis identifies candidate pathogenic variants in 9 of 18 patients with unexplained West syndrome.Human genetics · 2015Trial
- Diagnosis of Congenital Disorders of Glycosylation Type II Subtypes Through Comprehensive N-Glycan Profiling by Mass Spectrometry.International journal of molecular sciences · 2026Article
- Disrupted O-GalNAc glycosylation as a mechanism and biomarker ofbioRxiv : the preprint server for biology · 2026Article
- Clinical and genetic characterization of congenital disorders of glycosylation in 20 Chinese patients.Orphanet journal of rare diseases · 2025Article
- SLC35A2 loss-of-function variants affect glycomic signatures, neuronal fate and network dynamics.Brain : a journal of neurology · 2025Article
- Review
- Neuromuscular Defects in aBiomolecules · 2025Article
- Glycosphingolipid synthesis is impaired in SLC35A2-CDG and improves with galactose supplementation.Cellular and molecular life sciences : CMLS · 2025Article
- Clinical and Molecular Features of Patients With Congenital Disorders of Glycosylation in Japan.JIMD reports · 2025Article
- Genetic counseling for congenital disorders of glycosylation (CDG).Journal of genetic counseling · 2024Article
- Article
- Loss of Slc35a2 alters development of the mouse cerebral cortex.Neuroscience letters · 2024Article
- Loss ofbioRxiv : the preprint server for biology · 2023Article
- Article
- Glycosylation and behavioral symptoms in neurological disorders.Translational psychiatry · 2023Review
- Clinical Features, Neuropathology, and Surgical Outcome in Patients With Refractory Epilepsy and Brain Somatic Variants in theNeurology · 2023Article
- Intracellular traffic and polarity in brain development.Frontiers in neuroscience · 2023Review
- Article
- Somatic variants in diverse genes leads to a spectrum of focal cortical malformations.Brain : a journal of neurology · 2022Article
- Delivery of Nucleotide Sugars to the Mammalian Golgi: A Very Well (un)Explained Story.International journal of molecular sciences · 2022Review
13 more citing papers are in PubMed but not listed here.
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Authors and funding
20 authors at 6 institutions in 3 countries.
Funding
Abstract
Biochemical analysis and whole-exome sequencing identified mutations in the Golgi-localized UDP-galactose transporter SLC35A2 that define an undiagnosed X-linked congenital disorder of glycosylation (CDG) in three unrelated families. Each mutation reduced UDP-galactose transport, leading to galactose-deficient glycoproteins. Two affected males were somatic mosaics, suggesting that a wild-type SLC35A2 allele may be required for survival. In infancy, the commonly used biomarker transferrin showed abnormal glycosylation, but its appearance became normal later in childhood, without any corresponding clinical improvement. This may indicate selection against cells carrying the mutant allele. To detect other individuals with such mutations, we suggest transferrin testing in infancy. Here, we report somatic mosaicism in CDG, and our work stresses the importance of combining both genetic and biochemical diagnoses.
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