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Salt-Wasting Congenital Adrenal Hyperplasia: Detection of Mutations in CYP21B Gene in a Chilean Population¹

Department of Endocrinology (C.E.F., A.C., E.O.) and The Research and Development Unit of the Associated Unit of Clinical Laboratories (H.P., J.S., A.F.), Faculty of Medicine, Catholic University of Chile; and Department of Endocrinology of the Clinical Hospital at University of Chile (P.P.), Endocrinology Service (I.T.), Sotero del Rio and Luis Calvo Mackenna Hospitals, Public Health Services, Santiago, Chile

Address all correspondence and requests for reprints to: Carlos E. Fardella, Department of Endocrinology, Pontificia Universidad Catolica de Chile, Lira 44, Santiago, Chile.

The steroid 21-hydroxylase deficiency (21OHD) is the most frequent cause of congenital adrenal hyperplasia. We have characterized the disease-causing mutations in the 21-hydroxylase genes of 63 patients with salt-wasting congenital adrenal hyperplasia from a Chilean population of Hispanic origin, a group that has been scarcely evaluated. Using allele-specific PCR, lesions were identified in 97 chromosomes out of 126 tested (77%). The most frequent findings were the gene deletion or large gene conversion (LGC) = 22.9%, I2 splice = 19%, R357W = 12.7%, and Q319X = 10.5%. We did not find alleles with the mutation F308insT and we found three alleles with the cluster E6. The frequency of the point mutation R357W was at least two times more frequent than the one found in Caucasians populations, but similar to that communicated in Asian populations; this finding may be explained by the Asian ancestry of our South-Amerindian population. The frequency of Q319X was also high, similar only to those patients studied in Italy and in a neighboring Argentinian population. In summary, this is a genetic characterization of 21OHD made in an almost pure Hispanic population in Latin America. The high frequency of deletion of CYP21B gene, I2 splice, R357W, and Q319X mutations probably reflects the European-Caucasian-Spanish influence of the conquerors, mixed with Amerindians of Asian ancestry and modulated by other European immigrations.

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