ArticlePLoS neglected tropical diseases2018
Microdeletion on chromosome 8p23.1 in a familial form of severe Buruli ulcer.
Article in PLoS neglected tropical diseases, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers, 1 of them a synthesis that pooled it.
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9 citing papers in PubMed, 1 synthesis or guideline pooled it, 12 citations in OpenAlex.
- Individual and clinical variables associated with the risk of Buruli ulcer acquisition: A systematic review and meta-analysis.PLoS neglected tropical diseases · 2020Pooled it
- Human beta defensins 3 and 6 serve as diagnostic tools for identifying sepsis and pneumonia.Frontiers in immunology · 2026Article
- The monogenic landscape of human infectious diseases.The Journal of allergy and clinical immunology · 2025Review
- Type-I interferons promote innate immune tolerance in macrophages exposed to Mycobacterium ulcerans vesicles.PLoS pathogens · 2023Article
- Human genetics of Buruli ulcer.Human genetics · 2020Review
- Genome-wide association study of Buruli ulcer in rural Benin highlights role of two LncRNAs and the autophagy pathway.Communications biology · 2020Article
- Translocating Mycobacterium ulcerans: An experimental model.PloS one · 2020Article
- Human genetics of mycobacterial disease.Mammalian genome : official journal of the International Mammalian Genome Society · 2018Review
- A Variety of Alu-Mediated Copy Number Variations Can Underlie IL-12Rβ1 Deficiency.Journal of clinical immunology · 2018Review
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Authors and funding
20 authors at 5 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Buruli ulcer (BU), the third most frequent mycobacteriosis worldwide, is a neglected tropical disease caused by Mycobacterium ulcerans. We report the clinical description and extensive genetic analysis of a consanguineous family from Benin comprising two cases of unusually severe non-ulcerative BU. The index case was the most severe of over 2,000 BU cases treated at the Centre de Dépistage et de Traitement de la Lèpre et de l'Ulcère de Buruli, Pobe, Benin, since its opening in 2003. The infection spread to all limbs with PCR-confirmed skin, bone and joint infections. Genome-wide linkage analysis of seven family members was performed and whole-exome sequencing of both patients was obtained. A 37 kilobases homozygous deletion confirmed by targeted resequencing and located within a linkage region on chromosome 8 was identified in both patients but was absent from unaffected siblings. We further assessed the presence of this deletion on genotyping data from 803 independent local individuals (402 BU cases and 401 BU-free controls). Two BU cases were predicted to be homozygous carriers while none was identified in the control group. The deleted region is located close to a cluster of beta-defensin coding genes and contains a long non-coding (linc) RNA gene previously shown to display highest expression values in the skin. This first report of a microdeletion co-segregating with severe BU in a large family supports the view of a key role of human genetics in the natural history of the disease.
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