Homozygous deletion of arginine-173 in the CYP11B2 gene in a girl with congenital hypoaldosteronism

Hormone Research

Volumn 50, Issue 4, 1998, Pages 222-225

  Peter, M ^a,d   Nikischin, W ^a   Heinz Erian, P ^b   Fussenegger, W ^c   Kapelari, K ^b   Sippell, W G ^a  

^a UNIVERSITY OF KIEL   (Germany)

^b UNIVERSITY OF INNSBRUCK   (Austria)

^c Krankenhaus Dornbirn   (Austria)

^d Department of Paediatrics   (Germany)

Author keywords

Aldosterone synthase; Congenital hypoaldosteronism; CYP11B2

Indexed keywords

ALDOSTERONE; ALDOSTERONE SYNTHASE; AMINO ACID; ARGININE; CORTICOSTERONE; CORTICOSTERONE METHYL OXIDASE; LYSINE; POTASSIUM ION; RENIN; SODIUM ION; UNCLASSIFIED DRUG;

ALDOSTERONE BLOOD LEVEL; ARTICLE; CASE REPORT; CONSANGUINEOUS MARRIAGE; CORTICOSTERONE BLOOD LEVEL; ENZYME DEFECT; ENZYME DEFICIENCY; FAILURE TO THRIVE; FEEDING DISORDER; FEMALE; GENE DELETION; GENE SEQUENCE; HETEROZYGOTE; HUMAN; HYPOALDOSTERONISM; INFANT; PLASMA RENIN ACTIVITY; POTASSIUM BLOOD LEVEL; PRIORITY JOURNAL; PROTEIN SECONDARY STRUCTURE; SALT LOSING NEPHRITIS; SEQUENCE ANALYSIS; SODIUM BLOOD LEVEL;

EID: 0031743976     PISSN: 03010163     EISSN: None     Source Type: Journal    
DOI: 10.1159/000023278     Document Type: Article

References (20)

1. Visser HKA, Cost WS: A new hereditary defect in the biosynthesis of adosterone: Urinary C21 -corticosteroid pattern in three related patients with a salt-losing syndrome, suggesting an 18-oxidation defect. Acta Endocrinol Copenh 1964;47:589-612.
2. Degenhart HJ, Frankena L, Visser HKA, Cost WS, van Seters AP: Further investigation of a new hereditary defect in the biosynthesis of aldosterone: Evidence for a defect in 18-hydroxylation of corticosterone. Acta Physiol Pharmacol Neerl 1966;14:1-2.
3. Ulick S, Gautier E, Vetter KK, Markello JR, Yaffe S, Lowe CU: An aldosterone biosynthetic defect in a salt-losing disorder. J Clin Endocrinol Metab 1964;24:669-672.
4. Rappaport R, Dray F, Legrand JC, Royer P: Hyypoaldostéronisme congénital familial par défaut de la 18-OH-déhydrogénase. Pediatr Res 1968;2:456-463.
5. Ulick S: Diagnosis and nomenclature of the disorders of the terminal portion of the aldosterone biosynthetic pathway. J Clin Endocrinol Metab 1976;43:92-96.
6. Kawamoto T, Mitsuuchi Y, Ohnishi T, Ichikawa Y, Yokoyama Y, Sumimoto H, Toda K, Miyahara K, Kuribayashi I, Nakao K: Cloning and expression of a cDNA for human cytochrome P-450aldo as related to primary aldosteronism. Biochem Biophys Res Commun 1990;173:309-316.
7. 11β). J Biol Chem 1989;264:20961-20967.
8. White PC, Curnow KM, Pascoe L: Disorders of steroid 11β-hydroxylase isozymes. Endocr Rev 1994;15:421-438.
9. Mitsuuchi Y, Kawamoto T, Rösler A, Naiki Y, Miyahara K, Toda K, Kuribayashi I, Orii T, Yasuda K, Miura K, Nakao K, Imura H, Ulick S, Shizuta Y: Congenitally defective aldosterone biosynthesis in humans: The involvement of point mutations of the P-450C18 gene (CYP11B2) in CMO II deficient patients. Biochem Biophys Res Commun 1992;182:974-979.
10. Pascoe L, Curnow KM, Slutsker L, Rösler A, White PC: Mutations in the human CYP11B2 (aldosterone synthase) gene causing corticosterone methyloxidase II deficiency. Proc Natl Acad Sci USA 1992;89:4996-5000.
11. Mitsuuchi Y, Kawamoto T, Miyahara K, Ulick S, Morton DH, Naiki Y, Kuribayashi I, Toda K, Hara T, Orii T, Yasuda K, Miura K, Yamamoto Y, Imura H, Shizuta Y: Congenitally defective aldosterone biosynthesis in humans: inactivation of the P-450C18 gene (CYP11B2) due to nucleotide deletion in CMO I deficient patients. Biochem Biophys Res Commun 1993;190:864-869.
12. Geley S, Jöhrer K, Peter M, Denner K, Bernhardt R, Sippell WG, Kofler R: Amino acid substitution R384P in aldosterone synthase causes corticosterone methyloxidase type I deficiency. J Clin Endocrinol Metab 1995;80:424-429.
13. Zhang G, Rodriguez H, Fardella CE, Harris DA, Miller WL: Mutation T318M in the CYP11B2 gene encoding P450c11AS (aldosterone synthase) causes corticosterone methyloxidase II deficiency. Am J Hum Genet 1995;57:1037-1043.
14. c18). Biochem Biophys Res Commun 1997;234:382-385.
15. Peler M, Fawaz L, Drop SLS, Visser HKA, Sippell WG: Hereditary defect in biosynthesis of aldosterone: Aldosterone synthase deficiency 1964-1997. J Clin Endocrinol Metab 1997;82:3525-3528.
16. Sippell WG, Bidlingmaier F, Becker H, Bruning T, Dörr HG, Hahn HGW, Hollmann G, Knorr D: Simultaneous radioimmunoassay of plasma aldosterone, corticosterone, 11-deoxycorticosterone, progesterone, 17-hydroxyprogesterone, 11-deoxycortisol, cortisol, and cortisone. J Steroid Biochem 1978;9:63-67.
17. Rosier A: The natural history of salt-wasting disorders of adrenal and renal origin. J Clin Endocrinol Metab 1984;59:689-700.
18. Peter M, Partsch CJ, Sippell WG: Multisteroid analysis in children with terminal aldosterone biosynthesis defects. J Clin Endocrinol Metab 1995;80:1622-1627.
19. Fardella CE, Hum DW, Rodriguez H, Zhang G, Barry FL, Ilicki A, Bloch CA, Miller WL: Gene conversion in the CYP11B2 gene encoding P450c11AS is associated with, but does not cause, the syndrome of corticosterone methyloxidase II deficiency. J Clin Endocrinol Metab 1996;81:321-326.
20. Ravichandran KG, Boddupalli SS, Hasermann CA, Peterson JA, Deisenhofer J: Crystal structure of hemoprotein domain of P450BM-3, a prototype for microsomal P450s. Science 1993;261:731-736.