A nonsense mutation (TGG [Trp116]-->TAG [Stop]) in CYP11B1 causes steroid 11 beta-hydroxylase deficiency
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...
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Published in | The journal of clinical endocrinology and metabolism Vol. 77; no. 6; p. 1677 |
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Main Authors | , , , , , , , |
Format | Journal Article |
Language | English |
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United States
01.12.1993
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Abstract | 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-->TAG (Trp116-->Stop). To further analyze the role of CYP11B2 encoding steroid 18-hydroxylase (P450c18) 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 P450c11 was not produced at all due to the nonsense mutation in CYP11B1 of the patient without any mutation in CYP11B2. |
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AbstractList | 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-->TAG (Trp116-->Stop). To further analyze the role of CYP11B2 encoding steroid 18-hydroxylase (P450c18) 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 P450c11 was not produced at all due to the nonsense mutation in CYP11B1 of the patient without any mutation in CYP11B2. |
Author | Mitsuuchi, Y Orii, T Imura, H Naiki, Y Toda, K Miyahara, K Kawamoto, T Shizuta, Y |
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BackLink | https://www.ncbi.nlm.nih.gov/pubmed/7903314$$D View this record in MEDLINE/PubMed |
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CitedBy_id | crossref_primary_10_1016_S0889_8529_08_70019_7 crossref_primary_10_1016_S1575_0922_04_74628_8 crossref_primary_10_1111_cen_12834 crossref_primary_10_1515_JPEM_2006_19_10_1267 crossref_primary_10_1093_hmg_6_11_1829 crossref_primary_10_1515_IJDHD_2001_2_1_37 crossref_primary_10_1146_annurev_med_49_1_311 crossref_primary_10_1016_0960_0760_95_00030_4 crossref_primary_10_1111_j_1365_2265_2006_02740_x crossref_primary_10_1016_j_beem_2008_10_014 crossref_primary_10_1530_EJE_13_0737 |
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Snippet | Steroid 11 beta-hydroxylase deficiency (11 beta OHD), an autosomal recessive hereditary disease, accounts for 5-8% of cases of congenital adrenal hyperplasia.... |
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SubjectTerms | Adrenal Hyperplasia, Congenital Adult Base Sequence Cells, Cultured Codon Exons Humans Male Molecular Sequence Data Point Mutation Polymerase Chain Reaction Polymorphism, Restriction Fragment Length Steroid 11-beta-Hydroxylase - genetics Transfection |
Title | A nonsense mutation (TGG [Trp116]-->TAG [Stop]) in CYP11B1 causes steroid 11 beta-hydroxylase deficiency |
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