ArticleOrphanet journal of rare diseases2014
Single point mutation in Rabenosyn-5 in a female with intractable seizures and evidence of defective endocytotic trafficking.
Article in Orphanet journal of rare diseases, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 29 citations in OpenAlex.
- Rabenosyn-5 suppresses non-small cell lung cancer metastasis via inhibiting CDC42 activity.Cancer gene therapy · 2024Article
- Genetic predisposition study of heart failure and its association with cardiomyopathy.The Egyptian heart journal : (EHJ) : official bulletin of the Egyptian Society of Cardiology · 2022Review
- Rab GTPases: The principal players in crafting the regulatory landscape of endosomal trafficking.Computational and structural biotechnology journal · 2022Review
- Synaptopathies in Developmental and Epileptic Encephalopathies: A Focus on Pre-synaptic Dysfunction.Frontiers in neurology · 2022Review
- Review
- Assessment of cellular cobalamin metabolism in Gaucher disease.BMC medical genetics · 2020Article
- Screening of MYH7 gene mutation sites in hypertrophic cardiomyopathy and its significance.Chinese medical journal · 2019Article
- Cellular neurometabolism: a tentative to connect cell biology and metabolism in neurology.Journal of inherited metabolic disease · 2018Review
- Presynaptic disorders: a clinical and pathophysiological approach focused on the synaptic vesicle.Journal of inherited metabolic disease · 2018Article
- Article
- The role of the clinician in the multi-omics era: are you ready?Journal of inherited metabolic disease · 2018Article
- PACSIN2 accelerates nephrin trafficking and is up-regulated in diabetic kidney disease.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2017Article
- Whole genome sequence analysis of the TALLYHO/Jng mouse.BMC genomics · 2016Article
- Biomarkers and Algorithms for the Diagnosis of Vitamin B12 Deficiency.Frontiers in molecular biosciences · 2016Review
- Quo vadis: the re-definition of "inborn metabolic diseases".Journal of inherited metabolic disease · 2015Article
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Authors and funding
20 authors at 8 institutions in 3 countries.
Funding
Abstract
backgroundWe report a 6.5 year-old female with a homozygous missense mutation in ZFYVE20, encoding Rabenosyn-5 (Rbsn-5), a highly conserved multi-domain protein implicated in receptor-mediated endocytosis. The clinical presentation includes intractable seizures, developmental delay, microcephaly, dysostosis, osteopenia, craniofacial dysmorphism, macrocytosis and megaloblastoid erythropoiesis. Biochemical findings include transient cobalamin deficiency, severe hypertriglyceridemia upon ketogenic diet, microalbuminuria and partial cathepsin D deficiency. METHODS AND
resultsWhole exome sequencing followed by Sanger sequencing confirmed a rare (frequency:0.003987) homozygous missense mutation, g.15,116,371 G > A (c.1273G > A), in ZFYVE20 resulting in an amino acid change from Glycine to Arginine at position 425 of the Rbsn protein (p.Gly425Arg), as the only mutation segregating with disease in the family. Studies in fibroblasts revealed expression and localization of Rbsn-5G425R in wild-type manner, but a 50% decrease in transferrin accumulation, which is corrected by wild-type allele transfection. Furthermore, the patient's fibroblasts displayed an impaired proliferation rate, cytoskeletal and lysosomal abnormalities.
conclusionThese results are consistent with a functional defect in the early endocytic pathway resulting from mutation in Rbsn-5, which secondarily disrupts multiple cellular functions dependent on endocytosis, leading to a severe multi-organ disorder.
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