ArticleHuman genetics2016
Mutation in SLC6A9 encoding a glycine transporter causes a novel form of non-ketotic hyperglycinemia in humans.
Article in Human genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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21 citing papers in PubMed, 45 citations in OpenAlex.
- Novel SLC6A9 variants in an adult presenting with GlyT1 encephalopathy.Journal of human genetics · 2026Article
- Case Report: Neonatal lethality caused by novel compound heterozygous missense variants ofFrontiers in pediatrics · 2026Article
- Changes in glycinergic neurotransmission alter mammalian retinal information processing.Frontiers in molecular neuroscience · 2025Article
- Impaired glycine neurotransmission causes adolescent idiopathic scoliosis.The Journal of clinical investigation · 2024Article
- Non-Synonymous Variants in Fat QTL Genes among High- and Low-Milk-Yielding Indigenous Breeds.Animals : an open access journal from MDPI · 2023Article
- Association Study of theJournal of clinical medicine · 2022Article
- Synergistic Control of Transmitter Turnover at Glycinergic Synapses by GlyT1, GlyT2, and ASC-1.International journal of molecular sciences · 2022Review
- Advances in hyperekplexia and other startle syndromes.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2021Review
- Functional and Biochemical Consequences of Disease Variants in Neurotransmitter Transporters: A Special Emphasis on Folding and Trafficking Deficits.Pharmacology & therapeutics · 2021Review
- SLC6A20 transporter: a novel regulator of brain glycine homeostasis and NMDAR function.EMBO molecular medicine · 2021Article
- Elevated preoptic brain activity in zebrafish glial glycine transporter mutants is linked to lethargy-like behaviors and delayed emergence from anesthesia.Scientific reports · 2021Article
- Do damaging variants of SLC6A9, the gene for the glycine transporter 1 (GlyT-1), protect against schizophrenia?Psychiatric genetics · 2020Article
- What is the right sequencing approach? Solo VS extended family analysis in consanguineous populations.BMC medical genomics · 2020Article
- Dysregulated H3K27 Acetylation Is Implicated in Fatty Liver Hemorrhagic Syndrome in Chickens.Frontiers in genetics · 2020Article
- Genome-Wide Association Study Identifies Genomic Loci Associated With Neurotransmitter Concentration in Cattle.Frontiers in genetics · 2020Article
- Amino Acid Transport Defects in Human Inherited Metabolic Disorders.International journal of molecular sciences · 2019Review
- Glycine Transporter 1 Encephalopathy From Biochemical Pathway to Clinical Disease: Review.Child neurology open · 2019Review
- Metabolism of amino acid neurotransmitters: the synaptic disorder underlying inherited metabolic diseases.Journal of inherited metabolic disease · 2018Review
- Metabolic etiologies in West syndrome.Epilepsia open · 2018Review
- The astrocytic transporter SLC7A10 (Asc-1) mediates glycinergic inhibition of spinal cord motor neurons.Scientific reports · 2016Article
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Authors and funding
13 authors at 5 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Glycine cleavage system (GCS) catalyzes the degradation of glycine and disruption of its components encoded by GLDC, AMT and GCSH are the only known causes of glycine encephalopathy, also known as non-ketotic hyperglycinemia (NKH). In this report, we describe a consanguineous family with one child who presented with NKH, but harbored no pathogenic variants in any of the three genes linked to this condition. Whole-exome sequencing revealed a novel homozygous missense variant in exon 9 of SLC6A9 NM_201649.3: c.1219 A>G (p.Ser407Gly) that segregates with the disease within the family. This variant replaces the highly conserved S407 in the ion-binding site of this glycine transporter and is predicted to disrupt its function. In murine model, knockout of Slc6a9 is associated with equivalent phenotype of NKH, namely respiratory distress and hypotonia. This is the first demonstration that mutation of the glycine transporter can be associated with NKH in humans.
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