In our case, molecular genetic testing by mutation analysis in 15 FANC genes, exhibited a novel and homozygous splice site mutation, c.3066 + 1G > T, (IVS31 + 1G > T) in FANCA and parents were found to be heterozygous for the same mutation, confirming the diagnosis of FA. The gene discussed is FANCA; the disease is Friedreich ataxia.