Abstract | CONTEXT: OBJECTIVE: The aim was to explore the manifestations of combined deficiencies of 21-hydroxylase and POR and to search for lesions in apparent manifesting POR heterozygotes. PATIENTS AND METHODS: RESULTS: CYP21B mutations were found on both alleles, proving classical 21-hydroxylase deficiency. Fibroblast growth factor receptor 2 exons 8 and 10 were normal. A POR mutation, A287P, was found only on the maternal allele. Five previously reported patients had POR mutations found on only one allele, but their clinical characteristics were indistinguishable from patients with mutations on both alleles. Sequencing of exon 1U, 274 bp of POR 5' flanking DNA, and 12 of the 15 POR introns did not identify additional mutations affecting gene expression or splicing. CONCLUSION:
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Authors | Rachel R Scott, Larissa G Gomes, Ningwu Huang, Guy Van Vliet, Walter L Miller |
Journal | The Journal of clinical endocrinology and metabolism
(J Clin Endocrinol Metab)
Vol. 92
Issue 6
Pg. 2318-22
(Jun 2007)
ISSN: 0021-972X [Print] United States |
PMID | 17389698
(Publication Type: Case Reports, Journal Article, Research Support, N.I.H., Extramural)
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Chemical References |
- Steroid 21-Hydroxylase
- NADPH-Ferrihemoprotein Reductase
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Topics |
- Adrenal Hyperplasia, Congenital
(genetics)
- Base Sequence
- Craniosynostoses
(genetics)
- Exons
(genetics)
- Female
- Genetic Variation
- Heterozygote
- Humans
- Infant, Newborn
- Introns
(genetics)
- Molecular Sequence Data
- NADPH-Ferrihemoprotein Reductase
(deficiency, genetics)
- Steroid 21-Hydroxylase
(genetics)
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