Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Steroid 11-beta-hydroxylase

Inactivating mutations of this key enzyme in steroid hormone production cause hypertensive form of adrenal hyperplasia. A rare rearangement at this locus is found to be responsible for glucocorticoid remediable hypertension.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 20 days
Specimen type genomic DNA
Clinic Method Multiplex Ligation-Dependent Probe Amplification
Turnaround 20 days
Specimen type genomic DNA

Related Diseases:

Hyperaldosteronism type 1
CYP11B1
CYP11B2

References:

1.

Lifton RP et al. (1992) A chimaeric 11 beta-hydroxylase/aldosterone synthase gene causes glucocorticoid-remediable aldosteronism and human hypertension.

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2.

Mulatero P et al. (2004) Genetics of primary aldosteronism.

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3.

White PC et al. (1991) A mutation in CYP11B1 (Arg-448----His) associated with steroid 11 beta-hydroxylase deficiency in Jews of Moroccan origin.

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4.

Orphanet article

Orphanet ID 120949 [^]
5.

NCBI article

NCBI 1584 [^]
6.

OMIM.ORG article

Omim 610613 [^]
7.

Wikipedia article

Wikipedia EN (Steroid_11β-hydroxylase) [^]
Update: April 29, 2019