+ Site Statistics
+ Search Articles
+ PDF Full Text Service
How our service works
Request PDF Full Text
+ Follow Us
Follow on Facebook
Follow on Twitter
Follow on LinkedIn
+ Subscribe to Site Feeds
Most Shared
PDF Full Text
+ Translate
+ Recently Requested

A nonsense mutation fwdarw TAG in CYP11B1 causes steroid 11-beta-hydroxylase deficiency



A nonsense mutation fwdarw TAG in CYP11B1 causes steroid 11-beta-hydroxylase deficiency



Journal of Clinical Endocrinology & Metabolism 77(6): 1677-1682



Steroid 11-beta-hydroxylase deficiency (11-beta-OHD), an autosomal recessive hereditary disease, accounts for 5-8% of cases of congenital adrenal hyperplasia. In this study, we carried out a molecular genetic analysis of CYP11B1 encoding steroid 11-beta-hydroxylase (P450c11) from a Japanese patient affected with this disease. Nucleotide sequence analysis of polymerase chain reaction-amplified products of the patient's genome revealed the occurrence of a stop codon in exon 2 due to a point mutation, TGG fwdarw TAG (Trp-116 fwdarw Stop). To further analyze the role of CYP11B2 encoding steroid 18-hydroxylase (P45Oc18) in the 11-beta-OHD patient, CYP11B2 of the patient was also amplified and sequenced. In contrast to CYP11B1, there was no mutation in CYP11B2. Restriction fragment length polymorphism analysis indicated that the 11-beta-OHD patient is homozygous and his unaffected parents are heterozygous for the mutation. When a cDNA corresponding to CYP11B1 of the 11-beta-OHD patient was transfected into COS-7 cells, steroid 11-beta-hydroxylase activity was not detectable in mitochondria of the cells. These results demonstrate that intact P45Oc11 was not produced at all due to the nonsense mutation in CYP11B1 of the patient without any mutation in CYP11B2.

Please choose payment method:






(PDF emailed within 1 workday: $29.90)

Accession: 029727045

Download citation: RISBibTeXText


Related references

A nonsense mutation (TGG [Trp116]-->TAG [Stop]) in CYP11B1 causes steroid 11 beta-hydroxylase deficiency. Journal of Clinical Endocrinology and Metabolism 77(6): 1677-1682, 1993

Classic steroid 11-beta-hydroxylase deficiency caused by a C fwdarw G transversion in exon 7 of CYP11B1. Biochemical & Biophysical Research Communications 216(2): 723-728, 1995

Steroid 11-beta-hydroxylase deficiency caused by compound heterozygosity for a novel mutation, p.G314R, in one CYP11B1 allele, and a chimeric CYP11B2/CYP11B1 in the other allele. Hormone Research 63(6): 284-293, 2005

Missense mutation in CYP11B1 (CGA[Arg-384]-->GGA[Gly]) causes steroid 11 beta-hydroxylase deficiency. European Journal of Endocrinology 132(3): 286-289, 1995

A mutation in CYP11B1 (Arg-448----His) associated with steroid 11 beta-hydroxylase deficiency in Jews of Moroccan origin. Journal of Clinical Investigation 87(5): 1664-1667, 1991

Steroid 11-beta hydroxylase deficiency caused by compound heterozygosity for a novel mutation in intron 7 (IVS 7 DS+4A to G) in one CYP11B1 allele and R448H in exon 8 in the other. European Journal of Pediatrics 169(7): 891-894, 2010

Absence of steroid biosynthetic defects in heterozygote individuals for classic 11 beta-hydroxylase deficiency due to a R448H mutation in the CYP11B1 gene. Journal of Clinical Endocrinology and Metabolism 80(12): 3771-3773, 1995

A novel nonsense mutation in the Cyp11B1 gene from a subject with the steroid 11beta-hydroxylase form of congenital adrenal hyperplasia. Endocrine Research 29(4): 377-381, 2003

Novel mutation in CYP11B1 associated with steroid 11beta-hydroxylase deficiency. Hormone Research (Basel) 50(SUPPL 3): 104, Sept, 1998

Missense mutation in Cyp11B1 (Cga[Arg-384] -> Gga[Gly]) causes steroid 11-hydroxylase deficiency. European Journal of Endocrinology 132(3): 286-289, 1995

CYP11B1 mutation and polymorphisms in congenital adrenal hyperplasia due to steroid 11beta-hydroxylase deficiency. Hormone Research (Basel) 50(SUPPL 3): 136, Sept, 1998

Point mutations in cyp11b1 causing steroid 11 beta hydroxylase deficiency. Clinical Research 40(2): 310A, 1992

The combination of a novel 2 bp deletion mutation and p.D63H in CYP11B1 cause congenital adrenal hyperplasia due to steroid 11β-hydroxylase deficiency. Endocrine Journal 63(3): 301-310, 2016

Novel CYP11B1 mutations in congenital adrenal hyperplasia due to steroid 11 beta-hydroxylase deficiency. Journal of Clinical Endocrinology and Metabolism 83(1): 270-273, 1998

Classic steroid 11 beta-hydroxylase deficiency caused by a C-->G transversion in exon 7 of CYP11B1. Biochemical and Biophysical Research Communications 216(2): 723-728, 1995