ArticleGenetics in medicine : official journal of the American College of Medical Genetics2018
SCYL1 variants cause a syndrome with low γ-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN).
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT04653909 (The Effectiveness of Rehabilitation Program in an Ultra-rare Calfan Syndrome), which is not on this map. Cited by 35 papers, 1 of them a synthesis that pooled it.
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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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The Effectiveness of Rehabilitation Program in an Ultra-rare Calfan Syndrome
Who cites it
35 citing papers in PubMed, 1 synthesis or guideline pooled it, 63 citations in OpenAlex.
- Phenotype and Long-Term Outcome in Recurrent Paediatric Acute Liver Failure: Systematic Review and Individual Participant Data Analysis.Liver international : official journal of the International Association for the Study of the Liver · 2025Pooled it
- Recurrent Acute Liver Failure and Early Chronic Liver Disease in an Infant with CALFAN Syndrome.Indian pediatrics · 2026Article
- Recurrent acute liver failure in infancy - a novelWorld journal of clinical pediatrics · 2026Article
- Perturbation of genes linked to common schizophrenia risk variants identifies cilia programs.bioRxiv : the preprint server for biology · 2026Article
- Challenges in the diagnosis and treatment of genetic cholestasis in adults.JHEP reports : innovation in hepatology · 2026Review
- Article
- SCYL1 deficiency in CALFAN syndrome is associated with ER stress and cell death.Disease models & mechanisms · 2025Article
- Paediatric acute liver failure: A prospective, nationwide, population-based surveillance study in Germany.Journal of pediatric gastroenterology and nutrition · 2025Article
- Disorders of vesicular trafficking presenting with recurrent acute liver failure: NBAS, RINT1, and SCYL1 deficiency.Journal of inherited metabolic disease · 2025Review
- The organization and function of the Golgi apparatus in dendrite development and neurological disorders.Genes & diseases · 2023Review
- Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.Nature communications · 2023Article
- The clinical utility of rapid exome sequencing in a consanguineous population.Genome medicine · 2023Article
- Recurrent Acute Liver Failure in a Bahraini Child With a Novel Mutation of Spinocerebellar Ataxia-21.Cureus · 2023Article
- A Rare Case of Spinocerebellar Ataxia Autosomal Recessive 21 Presented with Liver Disease.Advanced biomedical research · 2023Article
- CALFAN (LowCase reports in hepatology · 2023Article
- Overexpression of SCYL1 Is Associated with Progression of Breast Cancer.Current oncology (Toronto, Ont.) · 2022Article
- mTORC1 controls Golgi architecture and vesicle secretion by phosphorylation of SCYL1.Nature communications · 2022Article
- A Link between Intrahepatic Cholestasis and Genetic Variations in Intracellular Trafficking Regulators.Biology · 2021Review
- Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1.Genetics in medicine : official journal of the American College of Medical Genetics · 2020Article
- SCYL1 arginine methylation by PRMT1 is essential for neurite outgrowth via Golgi morphogenesis.Molecular biology of the cell · 2020Article
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Authors and funding
23 authors at 11 institutions in 5 countries.
Funding
Abstract
purposeBiallelic mutations in SCYL1 were recently identified as causing a syndromal disorder characterized by peripheral neuropathy, cerebellar atrophy, ataxia, and recurrent episodes of liver failure. The occurrence of SCYL1 deficiency among patients with previously undetermined infantile cholestasis or acute liver failure has not been studied; furthermore, little is known regarding the hepatic phenotype.
methodsWe aimed to identify patients with SCYL1 variants within an exome-sequencing study of individuals with infantile cholestasis or acute liver failure of unknown etiology. Deep clinical and biochemical phenotyping plus analysis of liver biopsies and functional studies on fibroblasts were performed.
resultsSeven patients from five families with biallelic SCYL1 variants were identified. The main clinical phenotype was recurrent low γ-glutamyl-transferase (GGT) cholestasis or acute liver failure with onset in infancy and a variable neurological phenotype of later onset (CALFAN syndrome). Liver crises were triggered by febrile infections and were transient, but fibrosis developed. Functional studies emphasize that SCYL1 deficiency is linked to impaired intracellular trafficking.
conclusionSCYL1 deficiency can cause recurrent low-GGT cholestatic liver dysfunction in conjunction with a variable neurological phenotype. Like NBAS deficiency, it is a member of the emerging group of congenital disorders of intracellular trafficking causing hepatopathy.
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