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Clinical Chemistry 44: 2075-2082, 1998;
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(Clinical Chemistry. 1998;44:2075-2082.)
© 1998 American Association for Clinical Chemistry, Inc.

Molecular Diagnostics and Genetics

Comprehensive analytical strategy for mutation screening in 21-hydroxylase deficiency

Nils Krone, Adelbert Anton Roscher, Hans Peter Schwarza, and Andreas Braun

a Author for correspondence. Fax 49-89-5160-4784; e-mail hp.schwarz{at}kk-i.med.uni-muenchen.de.

Congenital adrenal hyperplasia (CAH) is an autosomal recessive disease with a wide range of clinical manifestations. It is most often caused by deficiency of steroid 21-hydroxylase, reflecting any of a wide range of mutations in the 21-hydroxylase (CYP21) gene. A major challenge in molecular diagnostics of CAH is the high homology between the CYP21 gene and the CYP21P pseudogene and the phenomenon of apparent gene conversion, which inactivates the functional gene. In this study we devised an improved stepwise diagnostic procedure involving nonradioactive Southern blotting and direct DNA sequencing. This strategy led to a successful elucidation of the molecular cause of the disease in 181 out of 182 unrelated alleles in a total of 91 clinically and biochemically characterized patients. We were able to identify all classical known disease-causing mutations of the 21-hydroxylase gene and a novel nonsense mutation (bp 670, A->C, Y97X). Our method also allows the reliable, secure diagnosis of the heterozygous configuration and may therefore be used for pre-, peri-, and postnatal diagnosis of CAH, even when informative data of the index patient are lacking. Furthermore, it can be used to confirm the diagnosis of CAH in newborns detected in 17-hydroxyprogesterone screening programs.




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P. C. White and P. W. Speiser
Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency
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N. Krone, A. Braun, A. A. Roscher, D. Knorr, and H. P. Schwarz
Predicting Phenotype in Steroid 21-Hydroxylase Deficiency? Comprehensive Genotyping in 155 Unrelated, Well Defined Patients from Southern Germany
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