The codon 213 of the 11β-hydroxysteroid dehydrogenase type 2 gene is a hot spot for mutations in apparent mineralocorticoid excess

Journal of Clinical Endocrinology and Metabolism

Volumn 83, Issue 12, 1998, Pages 4391-4393

  Rogoff, Daniela ^a   Smolenicka, Zuzana ^b   Bergadá, Ignacio ^a   Vallejo, Graciela ^a   Barontini, Marta ^a   Heinrich, Juan Jorge ^a   Ferrari, Paolo ^b  

^a HOSPITAL DE NIÑOS RICARDO GUTIÉRREZ   (Argentina)

^b UNIVERSITY OF BERN   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

11BETA HYDROXYSTEROID DEHYDROGENASE; CREATINE; HYDROCORTISONE; MINERALOCORTICOID; MINERALOCORTICOID RECEPTOR; POTASSIUM; SODIUM; HYDROXYSTEROID DEHYDROGENASE; ISOENZYME;

ALDOSTERONE BLOOD LEVEL; ARTICLE; AUTOSOMAL DISORDER; CASE REPORT; CODON; CREATININE BLOOD LEVEL; ENZYME DEFECT; FEMALE; GENE MUTATION; GROWTH INHIBITION; HUMAN; HYDROCORTISONE BLOOD LEVEL; HYPERALDOSTERONISM; HYPERKALEMIA; HYPERTENSION; PLASMA RENIN ACTIVITY; PRIORITY JOURNAL; SCHOOL CHILD; SODIUM RETENTION; SYNDROME; AMINO ACID SEQUENCE; CHILD; GENETICS; MALE; METABOLISM; MUTATION; NUCLEOTIDE SEQUENCE; PATHOPHYSIOLOGY;

11-BETA-HYDROXYSTEROID DEHYDROGENASES; AMINO ACID SEQUENCE; BASE SEQUENCE; CHILD; CODON; HUMANS; HYDROXYSTEROID DEHYDROGENASES; HYPERTENSION; ISOENZYMES; MALE; MINERALOCORTICOIDS; MUTATION; SYNDROME;

EID: 0032238113     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jcem.83.12.5329     Document Type: Article

References (25)

1. 1. Ulick S, Levine LS, Gunczler P, et al. 1979 A syndrome of apparent mineralocorticoid excess associated with defects in the peripheral metabolism of cortisol. J Clin Endocrinol Metab. 49:757-764.
2. 2. Smith R, Maguire J, Stain-Oakley A, et al. 1996 Localization of 11β-HSD type 2 in human epithelial tissues. J Clin Endocrinol Metab. 81:3244-3248.
3. 3. Stewart PM, Murray B, Mason J. 1994 Type 2 of 11β-HSD in human fetal tissues. J Clin Endocrinol Metab. 78:1529-1532.
4. 4. Li KXS, Obeyesekere VR, Krozowski ZS, Ferrari P. 1997 Oxoreductase and dehydrogenase activities of the cloned 11β-hydroxysteroid dehydrogenase type 2 enzyme. Endocrinology, 138:2948-2952.
5. 5. Ferrari P, Smith RE, Funder JW, Krozowski ZS. 1996 Substrate and inhibitor specificity of the cloned human 11β-hydroxysteroid dehydrogenase type 2 isoform. Am J Physiol. 270:E900-E904.
6. 6. Shackleton CHL, Rodriguez J, Arteaga E, Lopez JM, Winter JSD. 1985 Congenital 11β-hydroxysteroid dehydrogenase deficiency associated with juvenile hypertension: corticoid metabolite profiles of four patients and their families. Clin Endocrinol (Oxf). 22:701-712.
7. 7. Funder JW, Pearce PT, Smith R, Smith AI. 1988 Mineralocorticoid action: target tissue specificity is enzyme, not receptor, mediated. Science. 243:583-585.
8. 8. Edwards CRW, Stewart PM, Burt D, et al. 1988 Localization of 11β-HSD tissue specific protector of the mineralocorticoid receptor. Lancet. 2:986-989.
9. 9. Mune T, Rogerson FM, Nikkila H, Agarwal AK, White PC. 1995 Human hypertension caused by mutations in the kidney isoenzyme of 11 beta-hydroxysteroid dehydrogenase. Nat Genet. 10:394-399.
10. 10. Ferrari P, Obeyesekere VR, Li K, et al. 1996 Point mutations abolish 11β-hydroxysteroid dehydrogenase type II activity in three families with the congenital syndrome of apparent mineralocorticoid excess. Mol Cell Endocrinol. 119:21-24.
11. 11. Albiston AL, Obeyesekere VR, Smith RE, Krozowski ZS. 1994 Cloning and tissue distribution of the human 11-HSD type 2 enzyme. Mol Cell Endocrinol. 105:R11-R17.
12. 12. Dave-Sharma S, Wilson R, Harbison M, et al. 1998 Examination of genotype and phenotype in 14 patients with apparent mineralocorticoid excess. J Clin Endocrinol Metab. 83:2244-2254.
13. 13. Krozowski ZS, Stewart PM, Obeyesekere VR, Li K, Ferrari P. 1997 Mutations in the 11β-hydroxysteroid dehydrogenase type II enzyme associated with hypertension and possibly stillbirth. Clin Exp Hypertens. 19:519-529.
14. 14. Moríneau G, Pascoe L, Krozowski Z, et al. 1997, Mutation R213C et A328V du güene de la 11βHSD2 responsables du syndrome d'excès apparent de minéralocorticoides. Ann Endocrinol. [Suppl 2] 58:25128.
15. 15. Budowle B, Chakraborty R, Giusti AM, Eisenberg AJ, Allen RC. 1991 Analysis of the VNTR locus D1S80 by the PCR followed by high resolution PAGE. Am J Hum Genet. 48:137-144.
16. 16. Krozowski ZS, Maguire JA, Stein-Oakley AN, Dowling J, Smith RE, Andrews RK. 1995 Immunohistochemical localization of the 11 beta-hydroxysteroid dehydrogenase type II enzyme in human kidney and placenta. J Clin Endocrinol Metab. 80:2203-2209.
17. 17. Wilson RC, Harbison MD, Krozowski ZS, et al. 1995 Several homozygous mutations in the gene for 11β-hydroxysteroid dehydrogenase type 2 in patients with apparent mineralocorticoid excess. J Clin Endocrinol Metab. 80:3145-3150.
18. 18. Ollila J, Lappalainen I, Vihinen M. 1996 Sequence specificity in CpG mutation hotspots. FEBS Lett. 396:119-122.
19. 19. El Antri S, Mauffret O, Monnot M, Lescot E, Convert O, Fermandjian S. 1993 Structural deviations at CpG provide a plausible explanation for the high frequency of mutation at this site. Phosphorus nuclear magnetic resonance and circular dichroism studies. J Mol Biol. 230:373-378.
20. 20. Shimkets RA, Warnock DG, Bositis CM, et al. 1994 Liddle's syndrome: heritable human hypertension caused by mutations in the subunit of β the epithelial sodium channel. Cell. 79:407-414.
21. 21. Lifton RP, Dluhy RG, Powers M, et al. 1992 A chimaeric 11β-hydroxylase/ aldosterone synthase gen causes glucocorticoid-remediable aldosteronism and human hypertension. Nature. 355:262-265.
22. 22. Stewart PM, Krozowski ZS, Gupta A, et al. 1996 Hypertension in the syndrome of apparent mineralocorticoid excess due to mutation of the 11β-hydroxysteroid dehydrogenase type 2 gene. Lancet. 347:88-91.
23. 23. White P, Mune T, Agarwal A. 1997 11β-Hydroxysteroid dehydrogenase and the syndrome of apparent mineralocorticoid excess. Endocr Rev. 18:135-156.
24. 24. Kitanaka S, Tanae A, Hibi I. 1996 Apparent mineralocorticoid excess due to 11β-hydroxysteroid dehydrogenase deficiency - a possible cause of intrauterine growth retardation. Clin Endocrinol (Oxf). 44:353-359.
25. 25. Resnick LM, Laragh JH. 1985 Calcium metabolism and parathyroid function in primary aldosteronism. Am J Med. 78:385-390.