ArticleHuman genetics2017
Mutations in SLC5A6 associated with brain, immune, bone, and intestinal dysfunction in a young child.
Article in Human genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers.
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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.
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Who cites it
34 citing papers in PubMed, 64 citations in OpenAlex.
- A Slc5a6-deficient mouse model reveals metabolically driven cardiomyopathy with therapeutic potential for vitamin-based intervention.JCI insight · 2026Article
- Structural basis for multivitamin recognition and transport by human SMVT.Nature communications · 2026Article
- Article
- Exosomal miRNA-mRNA interactions highlight MSC-like molecular signatures in dental pulp fibroblasts.Stem cell research & therapy · 2026Article
- MIRAGE: A Bayesian statistical method for gene-level rare-variant analysis incorporating functional annotations.American journal of human genetics · 2026Article
- Biotin methyl ester enhances cargo release in RUSH system and enables rapid biotinylation with TurboID.Communications biology · 2025Article
- The effects of formula milk on development, nutrient absorption, and immune characteristics of piglets.BMC genomics · 2025Article
- Persistent Inflammation, Maladaptive Remodeling, and Fibrosis in the Kidney Following Long COVID-like MHV-1 Mouse Model.Diseases (Basel, Switzerland) · 2025Article
- Biotin/sulfasalazine combination therapy alleviates acetic acid-induced ulcerative colitis in rats via modulation of S1PR1/NF-κB/IL-23/STAT3/COX-2 axis.Scientific reports · 2025Article
- Article
- Isolation method of brain microvessels from small frozen human brain tissue for blood-brain barrier protein expression analysis.Fluids and barriers of the CNS · 2024Article
- Genome sequencing enables diagnosis and treatment of SLC5A6 neuropathy.European journal of human genetics : EJHG · 2024Article
- Biotin Homeostasis and Human Disorders: Recent Findings and Perspectives.International journal of molecular sciences · 2024Review
- Novel missense variants cause intermediate phenotypes in the phenotypic spectrum of SLC5A6-related disorders.Journal of human genetics · 2024Article
- A new case of sodium-dependent multivitamin transporter defect occurring as a life-threatening condition responsive to early vitamin supplementation and literature review.Molecular genetics & genomic medicine · 2024Review
- Recurrent "outsider" intronic variation in theFrontiers in genetics · 2024Article
- Chondroitin sulfate alleviates osteoporosis caused by calcium deficiency by regulating lipid metabolism.Nutrition & metabolism · 2023Article
- Sodium-dependent multivitamin transporter defects: a rare cause of recurrent vomiting and faltering growth.Frontline gastroenterology · 2023Article
- Effect of Chronic Cadmium Exposure on Brain and Liver Transporters and Drug-Metabolizing Enzymes in Male and Female Mice Genetically Predisposed to Alzheimer's Disease.Drug metabolism and disposition: the biological fate of chemicals · 2022Article
- Mendelian Randomization and GWAS Meta Analysis Revealed the Risk-Increasing Effect of Schizophrenia on Cancers.Biology · 2022Article
Corrections and comments
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Authors and funding
4 authors at 3 institutions in 1 country.
Funding
Abstract
The human sodium-dependent multivitamin transporter (hSMVT) is a product of the SLC5A6 gene and mediates biotin, pantothenic acid, and lipoate uptake in a variety of cellular systems. We report here the identification of mutations R94X, a premature termination, and R123L, a dysfunctional amino acid change, both in exon 3 of the SLC5A6 gene in a child using whole genome-scanning. At 15 months of age, the child showed failure to thrive, microcephaly and brain changes on MRI, cerebral palsy and developmental delay, variable immunodeficiency, and severe gastro-esophageal reflux requiring a gastrostomy tube/fundoplication, osteoporosis, and pathologic bone fractures. After identification of the SLC5A6 mutations, he responded clinically to supplemental administration of excess biotin, pantothenic acid, and lipoate with improvement in clinical findings. Functionality of the two mutants was examined by
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Registered trials
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.