To determine the mutational spectrum in the Tunisian CAH population, Kharrat et al. (2004) analyzed the CYP21 active gene in 51 unrelated patients using a strategy of digestion by restriction enzyme and sequencing. All patients had a classical form of 21-hydroxylase deficiency. Mutations were detected in over 94% of the chromosomes examined. The most frequent mutation in the Tunisian CAH population was Q318X ( ), with large prevalence (%), in contrast to the -% described in other series. Incidence of other mutations did not differ, as had been described: large deletions (., ) (%), mutation in intron 2 ( ) (%), and I172N ( ) (%). Four novel mutations were found in 4 patients with the salt-wasting form.