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Classic steroid 11 beta-hydroxylase deficiency caused by a C-->G transversion in exon 7 of CYP11B1.

Abstract：

:Steroid 11 beta-hydroxylase deficiency (11 beta OHD) is derived from mutations in the P45011 beta gene (CYP11B1) and inherited in an autosomal recessive manner. In the present study, we have performed a molecular genetic analysis of CYP11B1 in a Japanese patient clinically diagnosed as classic 11 beta OHD. Nucleotide sequencing of the PCR-amplified exons from the patient's genomic DNA reveals a unique C-->G transversion that converts codon 384 CGA (arginine) to GGA (glycine) in exon 7. Restriction fragment length polymorphism (RFLP) data demonstrate that the patient is homozygous for this mutation. When the full-length cDNA corresponding to CYP11B1 of the patient is transfected into COS-7 cells, no steroid 11 beta-hydroxylase activity is detectable in mitochondria of the cells. These results indicate that this point mutation completely abolishes P45011 beta activity and causes the classic 11 beta OHD.

journal_name

Biochem Biophys Res Commun

journal_title

Biochemical and biophysical research communications

authors

Yang LX,Toda K,Miyahara K,Nomoto S,Kinoshita E,Baba T,Yoshimoto M,Araki K,Kurashige T,Hashimoto K

doi

10.1006/bbrc.1995.2681

subject

Has Abstract,Author List Incomplete

pub_date

1995-11-13 00:00:00

pages

723-8

issue

2

eissn

0006-291X

issn

1090-2104

pii

S0006291X85726812

journal_volume

216

pub_type

杂志文章

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