FANCA and Friedreich ataxia: Screening by PCR and Sanger sequencing of FANCA 43 exons allowed the identification of 5 different nucleotide changes in 14 FA cases (47%): one reported missense mutation (c.1304G>A; p.Arg435His), a novel missense variant (c.1258G > A; p.Asp409Glu), a nonsense mutation (c.2749C > T; p.Arg917Ter), a small deletion (c.3788-3790delTCT), and an intronic mutation (c.2222 + 166G>A).