ArticleAmerican journal of human genetics2008
Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis.
Article in American journal of human genetics, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 102 papers.
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Who cites it
102 citing papers in PubMed, 255 citations in OpenAlex.
- Article
- A CGG Repeat Expansion in CSNK1E Associated with Progressive Myoclonic Epilepsy with Incomplete Penetrance.Movement disorders : official journal of the Movement Disorder Society · 2025Article
- The Life of a Kidney Podocyte.Acta physiologica (Oxford, England) · 2025Review
- Cryo-TEM structure of β-glucocerebrosidase in complex with its transporter LIMP-2.Nature communications · 2025Article
- Receptors and Host Factors for Enterovirus Infection: Implications for Cancer Therapy.Cancers · 2024Review
- Identification of Pathogenic Pathways for Recurrence of Focal Segmental Glomerulosclerosis after Kidney Transplantation.Diagnostics (Basel, Switzerland) · 2024Article
- Deficiency of Glucocerebrosidase Activity beyond Gaucher Disease: PSAP and LIMP-2 Dysfunctions.International journal of molecular sciences · 2024Article
- A Review of Focal Segmental Glomerulosclerosis Classification With a Focus on Genetic Associations.Kidney medicine · 2024Article
- Could miglustat be a potential candidate in the treatment of action myoclonus renal failure syndrome?Acta neurologica Belgica · 2023Article
- Article
- Collapsing glomerulopathy: unraveling varied pathogeneses.Current opinion in nephrology and hypertension · 2023Review
- Genotype-Phenotype correlations of SCARB2 associated clinical presentation: a case report and in-depth literature review.BMC neurology · 2022Article
- Collapsing Focal Segmental Glomerulosclerosis in Siblings With Compound Heterozygous Variants inFrontiers in pediatrics · 2022Article
- Human stefin B: from its structure, folding, and aggregation to its function in health and disease.Frontiers in molecular neuroscience · 2022Review
- A novel homozygous splice-site mutation in SCARB2 is associated with progressive myoclonic epilepsy with renal failure.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2021Article
- Miglustat Therapy forNeurology. Genetics · 2021Article
- Lysosome function in glomerular health and disease.Cell and tissue research · 2021Review
- Early Prediction of Tacrolimus-Induced Tubular Toxicity in Pediatric Refractory Nephrotic Syndrome Using Machine Learning.Frontiers in pharmacology · 2021Article
- Movement Disorders and Renal Diseases.Movement disorders clinical practice · 2020Review
- Genetic Study in Korean Pediatric Patients with Steroid-Resistant Nephrotic Syndrome or Focal Segmental Glomerulosclerosis.Journal of clinical medicine · 2020Article
42 more citing papers are in PubMed but not listed here.
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Authors and funding
26 authors at 10 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Action myoclonus-renal failure syndrome (AMRF) is an autosomal-recessive disorder with the remarkable combination of focal glomerulosclerosis, frequently with glomerular collapse, and progressive myoclonus epilepsy associated with storage material in the brain. Here, we employed a novel combination of molecular strategies to find the responsible gene and show its effects in an animal model. Utilizing only three unrelated affected individuals and their relatives, we used homozygosity mapping with single-nucleotide polymorphism chips to localize AMRF. We then used microarray-expression analysis to prioritize candidates prior to sequencing. The disorder was mapped to 4q13-21, and microarray-expression analysis identified SCARB2/Limp2, which encodes a lysosomal-membrane protein, as the likely candidate. Mutations in SCARB2/Limp2 were found in all three families used for mapping and subsequently confirmed in two other unrelated AMRF families. The mutations were associated with lack of SCARB2 protein. Reanalysis of an existing Limp2 knockout mouse showed intracellular inclusions in cerebral and cerebellar cortex, and the kidneys showed subtle glomerular changes. This study highlights that recessive genes can be identified with a very small number of subjects. The ancestral lysosomal-membrane protein SCARB2/LIMP-2 is responsible for AMRF. The heterogeneous pathology in the kidney and brain suggests that SCARB2/Limp2 has pleiotropic effects that may be relevant to understanding the pathogenesis of other forms of glomerulosclerosis or collapse and myoclonic epilepsies.
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