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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
medicine
Pentanucleotide Repeat Insertions in RAI1 Cause Benign Adult Familial Myoclonic Epilepsy Type 8
Movement Disorders, Year 2023
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Description
Background: Benign adult familial myoclonic epilepsy (BAFME) is an autosomal dominant disorder characterized by cortical tremors and seizures. Six types of BAFME, all caused by pentanucleotide repeat expansions in different genes, have been reported. However, several other BAFME cases remain with no molecular diagnosis. Objectives: We aim to characterize clinical features and identify the mutation causing BAFME in a large Malian family with 10 affected members. Methods: Long-read whole genome sequencing, repeat-primed polymerase chain reaction and RNA studies were performed. Results: We identified TTTTA repeat expansions and TTTCA repeat insertions in intron 4 of the RAI1 gene that co-segregated with disease status in this family. TTTCA repeats were absent in 200 Malian controls. In the affected individuals, we found a read with only nine TTTCA repeat units and somatic instability. The RAI1 repeat expansions cause the only BAFME type in which the disease-causing repeats are in a gene associated with a monogenic disorder in the haploinsufficiency state (ie, Smith-Magenis syndrome [SMS]). Nevertheless, none of the Malian patients exhibited symptoms related to SMS. Moreover, leukocyte RNA levels of RAI1 in six Malian BAFME patients were no different from controls. Conclusions: These findings establish a new type of BAFME, BAFME8, in an African family and suggest that haploinsufficiency is unlikely to be the main pathomechanism of BAFME. © 2023 International Parkinson and Movement Disorder Society. This article has been contributed to by U.S. Government employees and their work is in the public domain in the USA. © 2023 International Parkinson and Movement Disorder Society. This article has been contributed to by U.S. Government employees and their work is in the public domain in the USA.
Authors & Co-Authors
Dembélé, Mohamed E.
Mali, Bamako
University of Bamako Faculty of Medicine, Pharmacy and Odonto-stomatology
Pongpanich, Monnat
Thailand, Bangkok
Chulalongkorn University
Cisse, Lassana
Mali, Bamako
Centre Hospitalier Universitaire du Point g
Maïga, Alassane B.
Mali, Bamako
University of Bamako Faculty of Medicine, Pharmacy and Odonto-stomatology
Dembélé, Kékouta
Mali, Bamako
Centre de Santéde Référence de la Commune Iv du District de
Bamba, Salia
Mali, Bamako
University of Bamako Faculty of Medicine, Pharmacy and Odonto-stomatology
Yalcouye, Abdoulaye
Mali, Bamako
University of Bamako Faculty of Medicine, Pharmacy and Odonto-stomatology
Diarra, Salimata
Mali, Bamako
University of Bamako Faculty of Medicine, Pharmacy and Odonto-stomatology
United States, New Haven
Yale University
United States, Bethesda
National Institutes of Health Nih
Traoré, Oumou
Mali, Bamako
University of Bamako Faculty of Medicine, Pharmacy and Odonto-stomatology
Fischbeck, Kenneth H.
United States, Bethesda
National Institutes of Health Nih
Gahl, William Allen
United States, Bethesda
National Institutes of Health Nih
Guinto, Cheick Oumar
Mali, Bamako
University of Bamako Faculty of Medicine, Pharmacy and Odonto-stomatology
Mali, Bamako
Centre Hospitalier Universitaire du Point g
Shotelersuk, Vorasuk
Thailand, Bangkok
Chulalongkorn University
Thailand, Bangkok
Thai Red Cross Agency
Landouré, Guida
Mali, Bamako
University of Bamako Faculty of Medicine, Pharmacy and Odonto-stomatology
Mali, Bamako
Centre Hospitalier Universitaire du Point g
Statistics
Authors: 14
Affiliations: 7
Identifiers
Doi:
10.1002/mds.29654
ISSN:
08853185
Research Areas
Cancer
Genetics And Genomics