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 deficiency showed that the father and affected child were homozygous for a mutation, A/C655G, believed to activate a cryptic splice site in intron 2 of the 21-hydroxylase gene. The father, who was clinically asymptomatic, showed no biochemical evidence of disease. These results create problems… (More)


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