ArticleGenetics in medicine : official journal of the American College of Medical Genetics2020
Tracing the mutated HTT and haplotype of the African ancestor who spread Huntington disease into the Middle East.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers, 2 of them syntheses that pooled it.
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Who cites it
9 citing papers in PubMed, 2 syntheses or guidelines pooled it, 12 citations in OpenAlex.
- Huntington's disease in MENAT: systematic review and meta-analysis of prevalence, clinical features, and genetics.Journal of neurology · 2025Pooled it
- Prevalence and Incidence of Huntington's Disease: An Updated Systematic Review and Meta-Analysis.Movement disorders : official journal of the Movement Disorder Society · 2022Pooled it
- An exploration of the genetics of the mutant Huntingtin (mHtt) gene in a cohort of patients with chorea from different ethnic groups in sub-Saharan Africa.Annals of human genetics · 2025Article
- Review
- Risk Factors and Interventions for Suicide in Huntington's Disease-A Systematic Review.Journal of clinical medicine · 2024Review
- Machado-Joseph disease in a Sudanese family links East Africa to Portuguese families and allows reestimation of ancestral age of the Machado lineage.Human genetics · 2023Article
- Spanish HTT gene study reveals haplotype and allelic diversity with possible implications for germline expansion dynamics in Huntington disease.Human molecular genetics · 2023Article
- "Spazio Huntington": Tracing the Early Motor, Cognitive and Behavioral Profiles of Kids with Proven Pediatric Huntington Disease and Expanded Mutations > 80 CAG Repeats.Journal of personalized medicine · 2022Article
- A Novel Triplet-Primed PCR Assay to Detect the Full Range of Trinucleotide CAG Repeats in the Huntingtin Gene (International journal of molecular sciences · 2021Article
Corrections and comments
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Authors and funding
12 authors at 6 institutions in 5 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeWe aimed to determine the origin and genetic characteristics of Huntington disease (HD) in the Middle East.
methodsWe performed genetic and genealogical analyses to establish the ancestral origin of the HTT pathgenic variant from a large kindred from Oman (hereafter called the OM-HD-01 pedigree) by single-nucleotide polymorphism and dense haplotype analysis genotyping.
resultsWe traced the oldest ancestry of the largest, eight-generation, OM-HD-01 pedigree (n = 302 subjects, with 54 showing manifest HD) back to sub-Saharan Africa and identified a unique HD haplotype carried by all pedigree members, which consisted of portions of the C6 and C9 haplotypes and was carried by all affected members. Such a unique HD haplotype was of African origin and appeared to be associated with large CAG repeat expansions on average and high frequency of juvenile-onset HD. Three other families from the same area were also identified and found carrying a Caucasian HD haplotype A, also shared by most families of Arab ancestry.
conclusionMutated HTT spread into Middle East with a unique haplotype of African origin, appeared to be associated with juvenile-onset, a HD condition frequently occurring in Black Africans, and may have a significant impact on further development of novel targeted genetic therapies.
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