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Phenotype and genetic analysis of data collected within the first year of NeuroDev.
Kipkemoi, Patricia; Kim, Heesu Ally; Christ, Bjorn; O'Heir, Emily; Allen, Jake; Austin-Tse, Christina; Baxter, Samantha; Brand, Harrison; Bryant, Sam; Buser, Nick; de Menil, Victoria; Eastman, Emma; Murugasen, Serini; Galvin, Alice; Kombe, Martha; Ngombo, Alfred; Mkubwa, Beatrice; Mwangi, Paul; Kipkoech, Collins; Lovgren, Alysia; MacArthur, Daniel G; Melly, Brigitte; Mwangasha, Katini; Martin, Alicia; Nkambule, Lethukuthula L; Sanchis-Juan, Alba; Singer-Berk, Moriel; Talkowski, Michael E; VanNoy, Grace; van der Merwe, Celia; Newton, Charles; O'Donnell-Luria, Anne; Abubakar, Amina; Donald, Kirsten A; Robinson, Elise B.
Afiliação
  • Kipkemoi P; Neuroscience Unit, KEMRI-Wellcome Trust, Center for Geographic Medicine Research Coast, Kilifi, Kenya; Complex Trait Genetics Department, Center for Neurogenomics and Cognitive Research, Vrije Universiteit Amsterdam, Amsterdam, the Netherlands.
  • Kim HA; The Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Christ B; Department of Paediatrics and Child Health, Red Cross War Memorial Children's Hospital and University of Cape Town, 4th Floor ICH Building, Rondebosch, South Africa.
  • O'Heir E; The Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Allen J; The Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Austin-Tse C; The Broad Institute of MIT and Harvard, Cambridge, MA, USA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
  • Baxter S; The Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Brand H; The Broad Institute of MIT and Harvard, Cambridge, MA, USA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA; Department of Neurology, Harvard Medical School, Boston, MA, USA.
  • Bryant S; The Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Buser N; The Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • de Menil V; The Broad Institute of MIT and Harvard, Cambridge, MA, USA; Department of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, MA, USA.
  • Eastman E; Department of Paediatrics and Child Health, Red Cross War Memorial Children's Hospital and University of Cape Town, 4th Floor ICH Building, Rondebosch, South Africa.
  • Murugasen S; Department of Paediatrics and Child Health, Red Cross War Memorial Children's Hospital and University of Cape Town, 4th Floor ICH Building, Rondebosch, South Africa.
  • Galvin A; The Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Kombe M; Neuroscience Unit, KEMRI-Wellcome Trust, Center for Geographic Medicine Research Coast, Kilifi, Kenya.
  • Ngombo A; Neuroscience Unit, KEMRI-Wellcome Trust, Center for Geographic Medicine Research Coast, Kilifi, Kenya.
  • Mkubwa B; Neuroscience Unit, KEMRI-Wellcome Trust, Center for Geographic Medicine Research Coast, Kilifi, Kenya.
  • Mwangi P; Neuroscience Unit, KEMRI-Wellcome Trust, Center for Geographic Medicine Research Coast, Kilifi, Kenya.
  • Kipkoech C; Neuroscience Unit, KEMRI-Wellcome Trust, Center for Geographic Medicine Research Coast, Kilifi, Kenya.
  • Lovgren A; The Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • MacArthur DG; The Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Melly B; Department of Paediatrics and Child Health, Red Cross War Memorial Children's Hospital and University of Cape Town, 4th Floor ICH Building, Rondebosch, South Africa.
  • Mwangasha K; Neuroscience Unit, KEMRI-Wellcome Trust, Center for Geographic Medicine Research Coast, Kilifi, Kenya.
  • Martin A; Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.
  • Nkambule LL; Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.
  • Sanchis-Juan A; The Broad Institute of MIT and Harvard, Cambridge, MA, USA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA; Department of Neurology, Harvard Medical School, Boston, MA, USA.
  • Singer-Berk M; The Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Talkowski ME; The Broad Institute of MIT and Harvard, Cambridge, MA, USA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA; Department of Neurology, Harvard Medical School, Boston, MA, USA.
  • VanNoy G; The Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • van der Merwe C; The Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Newton C; Neuroscience Unit, KEMRI-Wellcome Trust, Center for Geographic Medicine Research Coast, Kilifi, Kenya; Department of Psychiatry, University of Oxford, London, UK; Institute of Human Development, Aga Khan University, Nairobi, Kenya.
  • O'Donnell-Luria A; The Broad Institute of MIT and Harvard, Cambridge, MA, USA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.
  • Abubakar A; Neuroscience Unit, KEMRI-Wellcome Trust, Center for Geographic Medicine Research Coast, Kilifi, Kenya; Department of Psychiatry, University of Oxford, London, UK; Institute of Human Development, Aga Khan University, Nairobi, Kenya. Electronic address: amina.abubakar@aku.edu.
  • Donald KA; Department of Paediatrics and Child Health, Red Cross War Memorial Children's Hospital and University of Cape Town, 4th Floor ICH Building, Rondebosch, South Africa; Neuroscience Institute, University of Cape Town, Groote Schuur Hospital, Observatory, Cape Town, South Africa. Electronic address: kir
  • Robinson EB; The Broad Institute of MIT and Harvard, Cambridge, MA, USA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA. Electronic address: erob@broadinstitute.org.
Neuron ; 111(18): 2800-2810.e5, 2023 09 20.
Article em En | MEDLINE | ID: mdl-37463579
Genetic association studies have made significant contributions to our understanding of the etiology of neurodevelopmental disorders (NDDs). However, these studies rarely focused on the African continent. The NeuroDev Project aims to address this diversity gap through detailed phenotypic and genetic characterization of children with NDDs from Kenya and South Africa. We present results from NeuroDev's first year of data collection, including phenotype data from 206 cases and clinical genetic analyses of 99 parent-child trios. Most cases met criteria for global developmental delay/intellectual disability (GDD/ID, 80.3%). Approximately half of the children with GDD/ID also met criteria for autism. Analysis of exome-sequencing data identified a pathogenic or likely pathogenic variant in 13 (17%) of the 75 cases from South Africa and 9 (38%) of the 24 cases from Kenya. Data from the trio pilot are publicly available, and the NeuroDev Project will continue to develop resources for the global genetics community.
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Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Transtorno Autístico / Transtornos do Neurodesenvolvimento / Deficiência Intelectual Tipo de estudo: Prognostic_studies Limite: Child / Humans Idioma: En Revista: Neuron Assunto da revista: NEUROLOGIA Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Holanda
Texto completo
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Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Transtorno Autístico / Transtornos do Neurodesenvolvimento / Deficiência Intelectual Tipo de estudo: Prognostic_studies Limite: Child / Humans Idioma: En Revista: Neuron Assunto da revista: NEUROLOGIA Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Holanda