NON-EXPRESSION OF A COMMON MUTATION IN THE 21-HYDROXYLASE GENE - IMPLICATIONS FOR PRENATAL-DIAGNOSIS AND CARRIER TESTING

Mutation analysis in the family of a child with 21-hydroxylase deficie ncy showed that the father and affected child were homozygous for a mu tation, A/C655G, believed to activate a cryptic splice site in intron 2 of the 21-hydroxylase gene. The father, who was clinically asymptoma tic, showed no biochemical evidence of disease. These results create p roblems for the management of future pregnancies in such families and for the interpretation of the risk associated with carrier status for this mutation.