Genetic defects affecting the development of severe Buruli Ulcer

Buruli ulcer (BU) is a tropical infectious disease caused by Mycobacterium ulcerans. BU causes profound skin ulcerations and eventually bone infections. Life-long functional sequelae are observed in more than 20% of patients, most of whom are children. Several observations, in particular the large variability in the clinical severity of the disease after infection, suggested the role of human genetic factors in the development of BU. Here, we report two children with severe BU, born of consanguineous parents. The deep genetic exploration of this family led to the identification of a small deletion on chromosome 8 in both patients. The corresponding article is in press in PloS Neglected Tropical Diseases DNA was extracted from whole blood according to the Nucleon BACC2 Genomic DNA extraction protocol (GE Healthcare), assayed with the QuantIt Picogreen dsDNA kit (Life Technologies) and processed for the genotyping of >900,000 single nucleotide polymorphisms (SNPs) used for both linkage and copy number variant (CNV) analysis and >900,000 monomorphic nucleotides used for CNV analysis by the Affymetrix Genome-Wide 6.0 array