Abstract
Steroid 11β-hydroxylase (P45011β) deficiency, an autosomal recessive hereditary disease, accounts for about 8% of congenital adrenal hyperplasia. Recently, CYP11B1, the gene for steroid 11β-hydroxylase (P45011β) has been isolated and its nucleotide sequence determined. In the present study, we have carried out a molecular genetic study on a Japanese patient who is an offspring of a consanguineous marriage. We amplified 9 exons of CYP11B1 from the genomic DNA of the patient by polymerase chain reaction (PCR). Nucleotide sequence analysis, of the PCR products revealed occurrence of a point mutation in exon 2 which leads to the formation of a premature stop codon. Furthermore, we performed genomic Southern blotting analysis and restriction fragment length polymorphism analysis of the PCR products amplified from exon 2 in CYP11B1 of his family members. The results indicated that the patient is homozygous and his unaffected parents are heterozygous as for the mutation. White and his coworkers are the first to find out a missense point mutation near the heme-binding locus of CYP11B1 (White et al. J.Clin.Invest. 1991.87:1664-1667), but our present findings provide the first molecular basis of this disorder caused by nonsense mutation in CYP11B1.
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Naiki, Y., Mitsuuchi, Y., Kawamoto, T. et al. IDENTIFICATION OF A NEW MUTATION IN STEROID 11β-HYDROXYLASE DEFICIENCY. Pediatr Res 33 (Suppl 5), S13 (1993). https://doi.org/10.1203/00006450-199305001-00059
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DOI: https://doi.org/10.1203/00006450-199305001-00059