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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
medicine
Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease
Brain, Volume 135, No. 9, Year 2012
Notification
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Description
Brown-Vialetto-Van Laere syndrome was first described in 1894 as a rare neurodegenerative disorder characterized by progressive sensorineural deafness in combination with childhood amyotrophic lateral sclerosis. Mutations in the gene, SLC52A3 (formerly C20orf54), one of three known riboflavin transporter genes, have recently been shown to underlie a number of severe cases of Brown-Vialetto-Van Laere syndrome; however, cases and families with this disease exist that do not appear to be caused by SLC52A3 mutations. We used a combination of linkage and exome sequencing to identify the disease causing mutation in an extended Lebanese Brown-Vialetto-Van Laere kindred, whose affected members were negative for SLC52A3 mutations. We identified a novel mutation in a second member of the riboflavin transporter gene family (gene symbol: SLC52A2) as the cause of disease in this family. The same mutation was identified in one additional subject, from 44 screened. Within this group of 44 patients, we also identified two additional cases with SLC52A3 mutations, but none with mutations in the remaining member of this gene family, SLC52A1. We believe this strongly supports the notion that defective riboflavin transport plays an important role in Brown-Vialetto-Van Laere syndrome. Initial work has indicated that patients with SLC52A3 defects respond to riboflavin treatment clinically and biochemically. Clearly, this makes an excellent candidate therapy for the SLC52A2 mutation-positive patients identified here. Initial riboflavin treatment of one of these patients shows promising results. © 2012 The Author. Published by Oxford University Press on behalf of the Guarantors of Brain. All rights reserved.
Authors & Co-Authors
Johnson, Janel O.
United States, Bethesda
National Institutes of Health Nih
United Kingdom, London
Ucl Queen Square Institute of Neurology
Gibbs, J. Raphael
United States, Bethesda
National Institutes of Health Nih
United Kingdom, London
Ucl Queen Square Institute of Neurology
Megarbane, Andre
Lebanon, Beirut
Université Saint-joseph de Beyrouth
Urtizberea, Jean Andoni M.
France, Paris
Hospital Marin
Hernandez, Dena G.
United States, Bethesda
National Institutes of Health Nih
United Kingdom, London
Ucl Queen Square Institute of Neurology
Foley, A. Reghan
United Kingdom, London
Great Ormond Street Hospital for Children Nhs Foundation Trust
Arepalli, Sampath K.
United States, Bethesda
National Institutes of Health Nih
Pandraud, Amelie
United Kingdom, London
Ucl Queen Square Institute of Neurology
Simón-Sánchez, Javier
United States, Bethesda
National Institutes of Health Nih
Clayton, Peter T.
United Kingdom, London
Great Ormond Street Hospital for Children Nhs Foundation Trust
Reilly, Mary M.
United Kingdom, London
Ucl Queen Square Institute of Neurology
Muntoni, Francesco M.
United Kingdom, London
Great Ormond Street Hospital for Children Nhs Foundation Trust
Abramzon, Yevgeniya A.
United States, Bethesda
National Institutes of Health Nih
Houlden, Henry H.
United Kingdom, London
Ucl Queen Square Institute of Neurology
Singleton, Andrew B.
United States, Bethesda
National Institutes of Health Nih
United States, Bethesda
National Institute on Aging Nia
Statistics
Citations: 116
Authors: 15
Affiliations: 6
Identifiers
Doi:
10.1093/brain/aws161
e-ISSN:
14602156
Research Areas
Cancer
Genetics And Genomics
Maternal And Child Health