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C9orf72 repeat expansions in South Africans with amyotrophic lateral sclerosis.
Nel, Melissa; Agenbag, Gloudi M; Henning, Franclo; Cross, Helen M; Esterhuizen, Alina; Heckmann, Jeannine M.
Afiliación
  • Nel M; Neurology research group, Department of Medicine, University of Cape Town, Cape Town, South Africa.
  • Agenbag GM; Division of Human Genetics, Institute of Infectious Diseases and Molecular Medicine, Department of Pathology, University of Cape Town, Cape Town., South Africa.
  • Henning F; Division of Neurology, Department of Medicine, University of Stellenbosch, Cape Town., South Africa.
  • Cross HM; Division of Neurology, Department of Medicine, University of Cape Town, Cape Town, South Africa.
  • Esterhuizen A; Division of Human Genetics, Institute of Infectious Diseases and Molecular Medicine, Department of Pathology, University of Cape Town, Cape Town., South Africa; National Health Laboratory Service, Groote Schuur Hospital, Cape Town, South Africa.
  • Heckmann JM; Neurology research group, Department of Medicine, University of Cape Town, Cape Town, South Africa; Division of Neurology, Department of Medicine, University of Cape Town, Cape Town, South Africa. Electronic address: Jeanine.heckmann@uct.ac.za.
J Neurol Sci ; 401: 51-54, 2019 Jun 15.
Article en En | MEDLINE | ID: mdl-31009932
The hexanucleotide repeat expansion in the C9orf72 gene is the most common genetic variant found in individuals with sporadic amyotrophic lateral sclerosis (ALS), occurring at a frequency of between 7 and 11% in cohorts of European ancestry. While limited data suggest that C9-expansions (>30 repeats) are less frequent in African-Americans with ALS, there is no data on the frequency of C9-expansions among ALS subjects residing in Africa. We therefore investigated the frequency of this expansion mutation (using repeat-primed PCR) in a cohort of 143 South Africans (SA) with ALS. The cohort included different genetic ancestry subgroups who self-identified as black African (n = 24), Cape mixed-African (M/A) (n = 65), white European ancestry (n = 51), and Indian ancestry (n = 3). Three M/A individuals had a family history of ALS (2%) and all had normal C9orf72 alleles. Of the 140 individuals with sporadic ALS who were successfully genotyped, 10 (7%) carried pathogenic C9-expansions; four white and six M/A ancestry individuals, respectively. Our results highlight the importance of including Africans in genetic studies aimed at unravelling the genomic architecture in ALS and suggest pathogenetic mechanisms other than the C9orf72 expansion in black Africans with ALS.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Expansión de las Repeticiones de ADN / Población Negra / Proteína C9orf72 / Esclerosis Amiotrófica Lateral Tipo de estudio: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Aged / Female / Humans / Male / Middle aged País/Región como asunto: Africa Idioma: En Revista: J Neurol Sci Año: 2019 Tipo del documento: Article País de afiliación: Sudáfrica Pais de publicación: Países Bajos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Expansión de las Repeticiones de ADN / Población Negra / Proteína C9orf72 / Esclerosis Amiotrófica Lateral Tipo de estudio: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Aged / Female / Humans / Male / Middle aged País/Región como asunto: Africa Idioma: En Revista: J Neurol Sci Año: 2019 Tipo del documento: Article País de afiliación: Sudáfrica Pais de publicación: Países Bajos