ArticleClinica chimica acta; international journal of clinical chemistry2016
SLC52A2 [p.P141T] and SLC52A3 [p.N21S] causing Brown-Vialetto-Van Laere Syndrome in an Indian patient: First genetically proven case with mutations in two riboflavin transporters.
Article in Clinica chimica acta; international journal of clinical chemistry, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers, 1 of them a synthesis that pooled it.
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11 citing papers in PubMed, 1 synthesis or guideline pooled it, 28 citations in OpenAlex.
- Effectiveness of Riboflavin in Inherited Metabolic Diseases: A Systematic Review.Journal of inherited metabolic disease · 2026Pooled it
- Article
- Genome sequencing enables diagnosis and treatment of SLC5A6 neuropathy.European journal of human genetics : EJHG · 2024Article
- Brown-Vialetto-Van Laere syndrome.Iranian journal of child neurology · 2024Article
- New insights into the nutritional genomics of adult-onset riboflavin-responsive diseases.Nutrition & metabolism · 2023Review
- First report of paternal uniparental disomy of chromosome 8 withFrontiers in genetics · 2022Article
- Identification of contributing genes of Huntington's disease by machine learning.BMC medical genomics · 2020Article
- Effect of riboflavin deficiency on development of the cerebral cortex in Slc52a3 knockout mice.Scientific reports · 2020Article
- Reconstitution in Proteoliposomes of the Recombinant Human Riboflavin Transporter 2 (SLC52A2) Overexpressed inInternational journal of molecular sciences · 2019Article
- Clinical, pathological and functional characterization of riboflavin-responsive neuropathy.Brain : a journal of neurology · 2017Article
- Riboflavin Responsive Mitochondrial Dysfunction in Neurodegenerative Diseases.Journal of clinical medicine · 2017Review
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8 authors at 4 institutions in 2 countries.
Funding
Abstract
backgroundBrown-Vialetto-Van Laere Syndrome (BVVLS), a rare neurological disorder characterized by bulbar palsies and sensorineural deafness, is mainly associated with defective riboflavin transporters encoded by the SLC52A2 and SLC52A3 genes.
methodsHere we present a 16-year-old BVVLS patient belonging to a five generation consanguineous family from Indian ethnicity with two homozygous missense mutations viz., c.421C>A [p.P141T] in SLC52A2 and c.62A>G [p.N21S] in SLC52A3.
resultsFunctional characterization based on
conclusionsThis is the first report presenting mutations in both riboflavin transporters hRFVT-2 and hRFVT-3 in the same BVVLS patient. Also, c.62A>G [p.N21S] in SLC52A3 appears to contribute more to the disease phenotype in this patient than c.421C>A [p.P141T] in SLC52A2.
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