FANCD2 and Friedreich ataxia: A splice site mutation (c.2715 + 1G > A, E906LfsX4, rs201811817) in the Fanconi anemia (FA) gene, FANCD2, showed enrichment in the Northern Finnish hereditary cohort (3/247, 1.2%) when compared to controls (p = 0.036, OR = 7.5 and 95% CI = 1.3–45.3) (Table 1).