This finding complicates the molecular diagnosis of 21-hydroxylase deficiency and we recommend that, whenever a Q318X is identified, the structure of the CYP21A2 region should be determined to discriminate between the severe Q318X mutation and the normal Q318X variant.
CYP21A2 gene mutation analysis in Moroccan patients with classic form of 21-hydroxylase deficiency: high regional prevalence of p.Q318X mutation and identification of a novel p.L353R mutation.
Molecular genetic analysis of Tunisian patients with a classic form of 21-hydroxylase deficiency: identification of four novel mutations and high prevalence of Q318X mutation.
Molecular genetic analysis of Tunisian patients with a classic form of 21-hydroxylase deficiency: identification of four novel mutations and high prevalence of Q318X mutation.