2013; Kottemann and Smogorzewska 2013; Sawyer et al. 2015), three [FANCA (OMIM 607139), FANCC (OMIM 613899), and FANCG (OMIM 602956)] of which account for ~80% of the FA cases. Except for a few founder effects in specific populations, there is a wide spectrum of private mutations, including large intragenic deletions (The Rockefeller University. Fanconi Anemia database, http://www.rockefeller.edu/fanconi/). Here, FANCA is linked to Friedreich ataxia.