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It is an autosomal dominant disorder typically characterized by the coexistence of branchial cysts or fistulae, malformations of the external, middle, and inner ears with preauricular pits or tags and a variable degree of HI. Most cases of BO have been reported in populations of European ancestry. To date, only few cases have been reported in people from African descent.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>After a careful clinical examination, a pure tone audiometry was performed. DNA was extracted from peripheral blood and whole exome, and Sanger sequencing were performed for genetic analysis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Eight individuals from a large non\u2010consanguineous Malian family, with autosomal dominant inheritance were enrolled. The ages at diagnosis ranged from 8 to 54\u2009years. A high phenotypic variability was noted among the affected individuals. Four patients presented with a post\u2010lingual and mixed type of HI, one individual had conductive HI while three had normal hearing but presented other BO features namely branchial fistulae and preauricular sinus. Serum creatinine level and renal ultrasonography were normal in three affected individuals who performed them. Genetic testing identified a monoallelic pathogenic variant in <jats:italic>EYA1<\/jats:italic> (c.1286A\u2009&gt;\u2009G; p.Asp429Gly) segregating with BO syndrome in the family.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>This is the first genetically confirmed case of BO syndrome caused by <jats:italic>EYA1<\/jats:italic> variant in the sub\u2010Saharan African population, expanding the genetic spectrum of the condition.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1995","type":"journal-article","created":{"date-parts":[[2022,6,14]],"date-time":"2022-06-14T08:46:07Z","timestamp":1655196367000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["A monoallelic variant in <i>EYA1<\/i> is associated with <scp>Branchio\u2010Otic<\/scp> syndrome in a Malian family"],"prefix":"10.1002","volume":"10","author":[{"given":"Abdoulaye","family":"Yalcouy\u00e9","sequence":"first","affiliation":[{"name":"Division of Human Genetics, Department of Medicine, Faculty of Health Sciences University of Cape Town  Cape Town South Africa"},{"name":"Facult\u00e9 de M\u00e9decine et d'Odondostomatologie, USTTB  Bamako Mali"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Oumou","family":"Traor\u00e9","sequence":"additional","affiliation":[{"name":"Facult\u00e9 de M\u00e9decine et d'Odondostomatologie, USTTB  Bamako Mali"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Salimata","family":"Diarra","sequence":"additional","affiliation":[{"name":"Facult\u00e9 de M\u00e9decine et d'Odondostomatologie, USTTB  Bamako Mali"},{"name":"Neurogenetics Branch, National Institute of Neurological Disorders and Stroke  Bethesda Maryland USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7310-6082","authenticated-orcid":false,"given":"Isabelle","family":"Schrauwen","sequence":"additional","affiliation":[{"name":"Center for Statistical Genetics, Gertrude H. 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Sergievsky Center, and Department of Neurology Columbia University Medical Center  New York New York USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Samuel Mawuli","family":"Adadey","sequence":"additional","affiliation":[{"name":"Division of Human Genetics, Department of Medicine, Faculty of Health Sciences University of Cape Town  Cape Town South Africa"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohamed","family":"K\u00e9ita","sequence":"additional","affiliation":[{"name":"Facult\u00e9 de M\u00e9decine et d'Odondostomatologie, USTTB  Bamako Mali"},{"name":"Service d'ORL, Centre Hospitalier Universitaire de Gabriel Tour\u00e9  Bamako Mali"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cheick\u00a0O.","family":"Guinto","sequence":"additional","affiliation":[{"name":"Facult\u00e9 de M\u00e9decine et d'Odondostomatologie, USTTB  Bamako Mali"},{"name":"Service de Neurologie, Centre Hospitalier Universitaire du Point \u201cG\u201d  Bamako Mali"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Suzanne M.","family":"Leal","sequence":"additional","affiliation":[{"name":"Center for Statistical Genetics, Gertrude H. 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