Pro-453 to ser mutation in CYP21 is associated with nonclassic steroid 21-hydroxylase deficiency

David Owerbach, Lori Sherman, Anna Lisa Ballard, Ricardo Azziz

Research output: Contribution to journalArticle

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Abstract

Steroid 21-hydroxylase deficiency is the leading cause of impaired cortisol synthesis in congenital adrenal hyperplasia (CAH), with the nonclassic form (NC) comprising approximately 1% of the Caucasian population. The structure of the CYP21 gene was studied in 13 unrelated NC-CAH patients, three affected siblings, and 55 blood donors using polymerase chain reaction. In addition to the Leu-281 and Leu-30 mutations previously associated with NC-CAH, the finding of a Pro-453 to Ser mutation in exon-10 of CYP21 in the NC-CAH patients is reported. Ser-453 was found in 46.2% of unrelated NC-CAH patients, but only 7.7% and 3.6% of salt-wasting CAH patients and blood donors, respectively. In contrast to the Leu-281 and Leu-30 mutations, Ser-453 has not been previously detected in the CYP21 pseudogene (CYP21P) and, therefore, has not likely arisen by gene conversion.

Original languageEnglish (US)
Pages (from-to)1211-1215
Number of pages5
JournalMolecular Endocrinology
Volume6
Issue number8
DOIs
StatePublished - Aug 1992

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Steroid 21-Hydroxylase
Congenital Adrenal Hyperplasia
Mutation
Blood Donors
Gene Conversion
Pseudogenes
Hydrocortisone
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Siblings
Exons
Salts
Polymerase Chain Reaction
Population
Genes

ASJC Scopus subject areas

  • Molecular Biology
  • Endocrinology

Cite this

Pro-453 to ser mutation in CYP21 is associated with nonclassic steroid 21-hydroxylase deficiency. / Owerbach, David; Sherman, Lori; Ballard, Anna Lisa; Azziz, Ricardo.

In: Molecular Endocrinology, Vol. 6, No. 8, 08.1992, p. 1211-1215.

Research output: Contribution to journalArticle

Owerbach, David ; Sherman, Lori ; Ballard, Anna Lisa ; Azziz, Ricardo. / Pro-453 to ser mutation in CYP21 is associated with nonclassic steroid 21-hydroxylase deficiency. In: Molecular Endocrinology. 1992 ; Vol. 6, No. 8. pp. 1211-1215.
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