Salt-wasting congenital adrenal hyperplasia : Detection of mutations in CYP21B gene in a Chilean population

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...

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Bibliographic Details
Published in:The journal of clinical endocrinology and metabolism 1998-09, Vol.83 (9), p.3357-3360
Main Authors: FARDELLA, C. E, POGGI, H, PINEDA, P, SOTO, J, TORREALBA, I, CATTANI, A, OESTREICHER, E, FORADORI, A
Format: Article
Language:English
Subjects:
Adrenal Hyperplasia, Congenital - genetics
Adrenals. Adrenal axis. Renin-angiotensin system (diseases)
Alleles
Biological and medical sciences
Chile
Endocrinopathies
Female
Gene Deletion
Genotype
Homozygote
Humans
Male
Medical sciences
Mutation
Non tumoral diseases. Target tissue resistance. Benign neoplasms
Polymerase Chain Reaction
RNA Splicing
Steroid 21-Hydroxylase - genetics
Tropical medicine
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Summary: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.
ISSN:0021-972X
1945-7197
DOI:10.1210/jc.83.9.3357