ArticleHuman mutation2019
SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
Registry-linked trialOpen access · greenAbstract read
In one paragraph
Article in Human mutation, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT02450851 (Clinical and Genetic Evaluation of Patients With Undiagnosed Disorders Through the Undiagnosed Diseases Network), which is not on this map. Cited by 45 papers.
0numbers the graph read from it
0cells of the map it votes in
45citing papers in PubMed
6.3field-weighted citation impact, top 3% of its field
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Clinical and Genetic Evaluation of Patients With Undiagnosed Disorders Through the Undiagnosed Diseases Network
Who cites it
45 citing papers in PubMed, 64 citations in OpenAlex.
- Article
- Neurocentric No More? Oligodendrocyte Dysfunction Supports Epileptogenesis.Epilepsy currents · 2026Article
- Diagnosis of Congenital Disorders of Glycosylation Type II Subtypes Through Comprehensive N-Glycan Profiling by Mass Spectrometry.International journal of molecular sciences · 2026Article
- Targeted long-read RNA sequencing for rare disease diagnosis and variant interpretation.Science advances · 2026Article
- Disrupted O-GalNAc glycosylation as a mechanism and biomarker ofbioRxiv : the preprint server for biology · 2026Article
- Olig2-specific loss-of-function Slc35a2 results in hypomyelination and spontaneous seizures.Epilepsia · 2026Article
- Review
- Long-read sequencing identifies ATXN3 repeat expansions, and transcriptomics reveals disease progression biomarkers and druggable targets for spinocerebellar ataxia type 3.BMC neurology · 2025Article
- Neuromuscular Defects in aBiomolecules · 2025Article
- Glycosphingolipid synthesis is impaired in SLC35A2-CDG and improves with galactose supplementation.Cellular and molecular life sciences : CMLS · 2025Article
- Somatic variants in SLC35A2 leading to defects in N-glycosylation in mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE).Acta neuropathologica · 2025Article
- Solute Carrier Family 35 A2 (SLC35A2) Promotes Tumor Progression through MYC-Mediated Pathways in Colorectal Cancer.International journal of medical sciences · 2025Article
- Article
- Genetic counseling for congenital disorders of glycosylation (CDG).Journal of genetic counseling · 2024Article
- Host cell glycosylation selects for infection with CCR5- versus CXCR4-tropic HIV-1.Nature microbiology · 2024Article
- Biallelic variants identified in 36 Pakistani families and trios with autism spectrum disorder.Scientific reports · 2024Article
- X-Linked Epilepsies: A Narrative Review.International journal of molecular sciences · 2024Review
- SLC35A2 somatic variants in drug resistant epilepsy: FCD and MOGHE.Neurobiology of disease · 2023Review
- Deep exome sequencing identifies enrichment of deleterious mosaic variants in neurodevelopmental disorder genes and mitochondrial tRNA regions in bipolar disorder.Molecular psychiatry · 2023Article
- D-galactose Supplementation for the Treatment of Mild Malformation of Cortical Development with Oligodendroglial Hyperplasia in Epilepsy (MOGHE): A Pilot Trial of Precision Medicine After Epilepsy Surgery.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2023Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
69 authors at 20 institutions in 13 countries.
Bobby G NgHuman Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, California.
Paulina SosickaHuman Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, California.
Satish AgadiDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
Mohammed AlmannaiDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
Carlos A BacinoDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
Rita BaroneDepartment of Clinical and Experimental Medicine, Child Neurology and Psychiatry, University of Catania, Catania, Italy.
Lorenzo D BottoDepartments of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, Utah.
Jennifer E BurtonDepartment of Pediatrics, University of Illinois College of Medicine, Peoria, Illinois.
Colleen CarlstonDepartment of Pathology, University of Utah, Salt Lake City, Utah.
Brian Hon-Yin ChungDepartment of Paediatrics & Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China.
Julie S CohenDivision of Neurogenetics and Hugo W. Moser Research Institute, Kennedy Krieger Institute, Baltimore, Maryland.
David ComanDepartment of Metabolic Medicine, Queensland Children's Hospital, Brisbane, Australia.
Katrina M DippleDepartment of Pediatrics, University of Washington, Seattle, Washington.
Naghmeh DorraniDepartment of Pediatrics, UCLA, Los Angeles, California.
William B DobynsDepartments of Pediatrics, University of Washington, Seattle, Washington.
Abdallah F EliasDepartment of Medical Genetics, Shodair Children's Hospital, Helena, Montana.
Leon EpsteinNorthwestern University Feinberg School of Medicine, Chicago, Illinois.
William A GahlOffice of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.
Domenico GarozzoCNR, Institute for Polymers, Composites and Biomaterials, Catania, Italy.
Trine Bjørg HammerDanish Epilepsy Center-Filadelfia, Dianalund, Denmark.
Jaclyn HavenDepartment of Medical Genetics, Shodair Children's Hospital, Helena, Montana.
Delphine HéronAPHP,Genetics Department, GH Pity Salpetriere, CRMR Intellectual Disabilities of Rare Causes, Sorbonne University, Paris, France.
Matthew HerzogDepartment of Human Genetics, UCLA, Los Angeles, California.
George E HogansonDepartment of Pediatrics, University of Illinois College of Medicine, Peoria, Illinois.
Jesse M HunterAmbry Genetics, Aliso Viejo, California.
Mahim JainDivision of Neurogenetics and Hugo W. Moser Research Institute, Kennedy Krieger Institute, Baltimore, Maryland.
Jane JuusolaGeneDx, Gaithersburg, Maryland.
Shenela LakhaniCenter for Neurogenetics Brain and Mind Research Institute Weill Cornell Medicine, New York, New York.
Hane LeeDepartment of Human Genetics, UCLA, Los Angeles, California.
Joy LeeDepartment of Metabolic Medicine, The Royal Children's Hospital, Melbourne, Parkville, Victoria, Australia.
Katherine LewisDepartment of Metabolic Medicine, Queensland Children's Hospital, Brisbane, Australia.
Nicola LongoDepartments of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, Utah.ORCID 0000-0002-3677-1216
Charles Marques LourençoClinical Genetics and Neurogenetics, Centro Universitario Estacio de Ribeirao Preto, Ribeirao Preto, Brazil.
Christopher C Y MakDepartment of Paediatrics & Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China.ORCID 0000-0001-6934-6518
Dianalee McKnightGeneDx, Gaithersburg, Maryland.
Bryce A MendelsohnDepartment of Pediatrics, Division of Medical Genetics, University of California, San Francisco, San Francisco, California.
Cyril MignotAPHP,Genetics Department, GH Pity Salpetriere, CRMR Intellectual Disabilities of Rare Causes, Sorbonne University, Paris, France.
Ghayda MirzaaDepartments of Pediatrics, University of Washington, Seattle, Washington.
Wendy MitchellNeurology Division Children's Hospital Los Angeles, Los Angeles, California.
Hiltrud MuhleDepartment of Neuropediatrics, Christian-Albrechts-University of Kiel, Kiel, Germany.
Stanley F NelsonDepartment of Human Genetics, UCLA, Los Angeles, California.
Mariusz OlczakLaboratory of Biochemistry, Faculty of Biotechnology, University of Wroclaw, Wroclaw, Poland.
Christina G S PalmerDepartment of Human Genetics, UCLA, Los Angeles, California.
Arthur PartikianDepartments of Pediatrics & Neurology, Keck School of Medicine of University of Southern California, Los Angeles, California.
Marc C PattersonDivision of Child and Adolescent Neurology, Mayo Clinic, Rochester, Minnesota.
Tyler M PiersonDepartment of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, California.
Shane C QuinonezDivision of Genetics, Department of Pediatrics, Metabolism and Genomic Medicine, University of Michigan, Ann Arbor, Michigan.
Brigid M ReganThe University of Melbourne, Austin Health, Melbourne, Australia.
M Elizabeth RossCenter for Neurogenetics Brain and Mind Research Institute Weill Cornell Medicine, New York, New York.ORCID 0000-0001-6440-8089
Maria J Guillen SacotoGeneDx, Gaithersburg, Maryland.
Fernando ScagliaDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
Ingrid E SchefferThe University of Melbourne, Austin Health, Melbourne, Australia.
Devorah SegalCenter for Neurogenetics Brain and Mind Research Institute Weill Cornell Medicine, New York, New York.
Nilika Shah SinghalNeurology & Pediatrics, University of California, San Francisco, California.
Pasquale StrianoDepartment of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, Pediatric Neurology and Muscular Diseases Unit, G. Gaslini Institute, University of Genoa, Genova, Italy.
Luisa SturialeCNR, Institute for Polymers, Composites and Biomaterials, Catania, Italy.
Joseph D SymondsPaediatric Neurosciences Research Group, Royal Hospital for Children, Queen Elizabeth University Hospitals, Glasgow, UK.
Sha TangAmbry Genetics, Aliso Viejo, California.
Eric VilainCenter for Genetic Medicine Research, Children's National Medical Center, Columbia, Washington.
Mary WillisDepartment of Pediatrics, Naval Medical Center, San Diego, California.
Lynne A WolfeOffice of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.
Hui YangGeneDx, Gaithersburg, Maryland.
Shoji YanoDepartment of Pediatrics, Genetics Division, LAC+USC Medical Center, University of Southern California, Los Angeles, California.
Zöe PowisAmbry Genetics, Aliso Viejo, California.
Sharon F SuchyAmbry Genetics, Aliso Viejo, California.
Jill A RosenfeldGeneDx, Gaithersburg, Maryland.
Andrew C EdmondsonDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
Stephanie GrunewaldDepartment of Pediatrics, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Hudson H FreezeMetabolic Unit, Great Ormond Street Hospital NHS Trust, Institute for Child Health UCL, London, UK.
APLA Health · USBaylor College of Medicine · USGenVec · USAmbry Genetics (United States) · USCornell University · USUniversity of Southern California · USUniversity of Utah · USIllinois College · USInstitute of Polymers, Composites and Biomaterials · ITKennedy Krieger Institute · USNational Institutes of Health · USRoyal Children's Hospital · AUSanford Burnham Prebys Medical Discovery Institute · USShodair Children's Hospital · USSorbonne Université · FRUniversity of California, San Francisco · USUniversity of Hong Kong · HKUniversity of Washington · USCedars-Sinai Medical Center · USCentro Universitário de Rio Preto · BR
Funding
Coordinating Center for the Undiagnosed Diseases NetworkU01HG007530 · NHGRI · HARVARD MEDICAL SCHOOL · PI KOHANE, ISAAC S. · 2014 to 2022
$30.2MPilot of New Technologies to Increase the Genomic Diagnosis of Undiagnosed Disease Network (UDN) PatientsU01HG007709 · NHGRI · BAYLOR COLLEGE OF MEDICINE · PI BACINO, CARLOS A., LEE, BRENDAN · 2014 to 2022
$14.3MVanderbilt Center for Undiagnosed Diseases (VCUD) - BiorepositoryU01HG007674 · NHGRI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI COGAN, JOY D, HAMID, RIZWAN · 2014 to 2022
$13.7MAn integrated and diverse genomic medicine program for undiagnosed diseasesU01HG007672 · NHGRI · DUKE UNIVERSITY · PI SHASHI, VANDANA · 2014 to 2022
$13.4MDe novo copy number variation and gene discovery in human brain malformationsR01NS058721 · NINDS · UNIVERSITY OF CHICAGO · PI ARGILLI, EMANUELA · 2008 to 2025
$10.9MCenter for Integrated Approaches to Undiagnosed DiseasesU01HG007690 · NHGRI · BRIGHAM AND WOMEN'S HOSPITAL · PI LOSCALZO, JOSEPH · 2014 to 2022
$10.4MClinical Sequencing Core Facility for the Undiagnosed Diseases Network (UDN)U01HG007942 · NHGRI · BAYLOR COLLEGE OF MEDICINE · PI ENG, CHRISTINE · 2014 to 2021
$10.2MUCLA clinical site for the investigation of undiagnosed disordersU01HG007703 · NHGRI · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI MARTINEZ-AGOSTO, JULIAN, NELSON, STANLEY F. · 2014 to 2022
$10.1MThe Genetic Basis of Mid-Hindbrain MalformationsR01NS050375 · NINDS · UNIVERSITY OF MINNESOTA · PI DOBYNS, WILLIAM B. · 2005 to 2019
$9.9MMEDICAL GENETICS RESEARCH TRAINING GRANTT32GM008638 · NIGMS · UNIVERSITY OF PENNSYLVANIA · PI Rebecca Ganetzky · 1997 to 2026
$8.7MStanford Center for Undiagnosed DiseasesU01HG007708 · NHGRI · STANFORD UNIVERSITY · PI ASHLEY, EUAN A, BERNSTEIN, JONATHAN ADAM · 2014 to 2018
$8.0MZebrafish CoreU54NS093793 · NINDS · BAYLOR COLLEGE OF MEDICINE · PI BELLEN, HUGO J · 2015 to 2022
$7.5MNCATS NIH HHS U01 TR001395NHGRI NIH HHS U01 HG007530NHGRI NIH HHS U01 HG007672NHGRI NIH HHS U01 HG007674NHGRI NIH HHS U01 HG007690NHGRI NIH HHS U01 HG007703NHGRI NIH HHS U01 HG007708NHGRI NIH HHS U01 HG007709NHGRI NIH HHS U01 HG007942NHGRI NIH HHS U01 HG007943NICHD NIH HHS U54 HD090257NIDDK NIH HHS R01 DK099551NIGMS NIH HHS T32 GM008638NINDS NIH HHS K08 NS092898NINDS NIH HHS R01 NS050375NINDS NIH HHS R01 NS058721NINDS NIH HHS U54 NS093793
Abstract
Pathogenic de novo variants in the X-linked gene SLC35A2 encoding the major Golgi-localized UDP-galactose transporter required for proper protein and lipid glycosylation cause a rare type of congenital disorder of glycosylation known as SLC35A2-congenital disorders of glycosylation (CDG; formerly CDG-IIm). To date, 29 unique de novo variants from 32 unrelated individuals have been described in the literature. The majority of affected individuals are primarily characterized by varying degrees of neurological impairments with or without skeletal abnormalities. Surprisingly, most affected individuals do not show abnormalities in serum transferrin N-glycosylation, a common biomarker for most types of CDG. Here we present data characterizing 30 individuals and add 26 new variants, the single largest study involving SLC35A2-CDG. The great majority of these individuals had normal transferrin glycosylation. In addition, expanding the molecular and clinical spectrum of this rare disorder, we developed a robust and reliable biochemical assay to assess SLC35A2-dependent UDP-galactose transport activity in primary fibroblasts. Finally, we show that transport activity is directly correlated to the ratio of wild-type to mutant alleles in fibroblasts from affected individuals.
Indexed as
AnimalsBiopsyCells, CulturedCHO CellsCongenital Disorders of GlycosylationCricetulusFemaleHumansMaleMonosaccharide Transport ProteinsMutationUDP-Galactose TranslocatorsUridine Diphosphate GalactoseMonosaccharide Transport ProteinsUDP-Galactose TranslocatorsUridine Diphosphate Galactosecongenital disorders of glycosylationglycosidenucleotide sugar transporterUDP-galactose
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Registered trials
NCT02450851ClinicalTrials.gov
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.