The disorder is an autosomaldominant genetic trait caused by a mutation in the HLXB9 homeobox gene. In 2000 the first large series of Currarino cases was genetically screened for HLXB9 mutations, and it was showed that the gene is specifically causative for the syndrome, but not for other forms of sacral agenesis. The study was published on the American Journal of Human Genetics.
Currarino syndrome has an autosomal dominant pattern of inheritance
^Belloni, E; Martucciello, G; Verderio, D; Ponti, E; Seri, M; Jasonni, V; Torre, M; Ferrari, M; Tsui, LC; Scherer, SW (2000 Jan). "Involvement of the HLXB9 homeobox gene in Currarino syndrome.". American journal of human genetics66 (1): 312–9. PMC1288336. PMID10631160.Check date values in: |date= (help)