Isolated aldosterone synthase deficiency caused by simultaneous E198D and V386A mutations in the CYP11B2 gene.

doi:10.1210/jcem.83.11.5258

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Article

Isolated aldosterone synthase deficiency caused by simultaneous E198D and V386A mutations in the CYP11B2 gene.

The Journal of clinical endocrinology and metabolism - 1 Nov 1998

Portrat-Doyen S, Tourniaire J, Richard O, Mulatero P, Aupetit-Faisant B, Curnow K M, Pascoe L, Morel Y

Abstract excerpt

Isolated deficiencies in aldosterone biosynthesis are caused by mutations in the CYP11B2 (aldosterone synthase) gene. Patients with this deficiency have impaired aldosterone synthesis, exhibit increased plasma renin activity, secrete increased amounts of the steroid precursors DOC, corticosterone...

Topics

Cytochrome P-450 CYP11B2
Genotype
Humans
Infant, Newborn
Male
Mutation, Missense
Phenotype
Polymerase Chain Reaction
Polymorphism, Genetic

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