Genotype-phenotype correlation in a family with primary cortisol resistance: Possible modulating effect of the ER22/23EK polymorphism

European Journal of Endocrinology

Volumn 158, Issue 4, 2008, Pages 577-582

  Raef, Hussein ^a   Baitei, Essa Y ^a   Zou, Minjing ^a   Shi, Yufei ^a  

^a KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

Author keywords

[No Author keywords available]

Indexed keywords

ATENOLOL; CREATININE; DEXAMETHASONE; ENALAPRIL; GENOMIC DNA; GLUCOCORTICOID RECEPTOR ALPHA; HYDROCORTISONE; NIFEDIPINE; SPIRONOLACTONE; ARGININE; GLUCOCORTICOID RECEPTOR; GLUTAMIC ACID; LYSINE;

ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; CREATININE BLOOD LEVEL; DEXAMETHASONE SUPPRESSION TEST; DISEASE SEVERITY; DNA ISOLATION; DRUG DOSE ESCALATION; DRUG MEGADOSE; DRUG RESPONSE; EXON; FAMILIAL DISEASE; FATHER; FEMALE; GENE AMPLIFICATION; GENETIC POLYMORPHISM; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOSITY; HETEROZYGOTE; HIRSUTISM; HOMOZYGOSITY; HORMONE INHIBITION; HORMONE RESISTANCE; HUMAN; HUMAN CELL; HYDROCORTISONE BLOOD LEVEL; HYDROCORTISONE RESISTANCE; HYPERANDROGENISM; HYPERKALEMIA; HYPERTENSION; KIDNEY FAILURE; LABORATORY TEST; MALE; MOTHER; MUTATIONAL ANALYSIS; PERIPHERAL LYMPHOCYTE; PHENOTYPIC VARIATION; PHYSICAL EXAMINATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SIBLING; ADRENAL DISEASE; AMINO ACID SUBSTITUTION; CASE REPORT; FAMILY; GENETIC DISORDER; GENETICS; GENOTYPE; HOMOZYGOTE; METABOLISM; PHENOTYPE;

ADRENAL GLAND DISEASES; ADULT; AMINO ACID SUBSTITUTION; ARGININE; FAMILY; GENETIC DISEASES, INBORN; GENOTYPE; GLUTAMIC ACID; HETEROZYGOTE; HOMOZYGOTE; HUMANS; HYDROCORTISONE; LYSINE; MALE; PHENOTYPE; POLYMORPHISM, GENETIC; RECEPTORS, GLUCOCORTICOID;

EID: 41749085291     PISSN: 08044643     EISSN: None     Source Type: Journal    
DOI: 10.1530/EJE-07-0629     Document Type: Article

References (26)

1. Zhou J & Cidlowski JA. The human glucocorticoid receptor: one gene, multiple proteins and diverse responses. Steroids 2005 70 407-417.
2. Lu NZ & Cidlowski JA. The origin and functions of multiple human glucocorticoid receptor isoforms. Annals of the New York Academy of Sciences 2004 1024 102-123.
3. Charmandari E, Kino T & Chrousos GP. Familial/sporadic glucocorticoid resistance: clinical phenotype and molecular mechanisms. Annals of the New York Academy of Sciences 2004 1024 168-181.
4. Kino T, Vottero A, Charmandari E & Chrousos GP. Familial/sporadic glucocorticoid resistance syndrome and hypertension. Annals of the New York Academy of Sciences 2002 970 101-111.
5. Kino T & Chrousos GP. Glucocorticoid and mineralocorticoid resistance/ hypersensitivity syndromes. Journal of Endocrinology 2001 169 437-445.
6. Lamberts SW. Hereditary glucocorticoid resistance. Annales d'Endocrinologie 2001 62 164-167.
7. Ruiz M, Lind U. Gafvels M, Eggertsen G, Carlstedt-Duke J, Nilsson L, Holtmann M, Stierna P, Wikstrom AC & Werner S. Characterization of two novel mutations in the glucocorticoid receptor gene in patients with primary cortisol resistance. Clinical Endocrinology 2001 55 363-371.
8. Charmandari E, Kino T. Souvatzoglou E, Vottero A, Bhattacharyya N & Chrousos GP. Natural glucocorticoid receptor mutants causing generalized glucocorticoid resistance: molecular genotype, genetic transmission, and clinical phenotype. Journal of Clinical Endocrinology and Metabolism 2004 89 1939-1949.
9. Charmandari E, Raji A, Kino T, Ichijo T, Tiulpakov A, Zachman K & Chrousos GP. A novel point mutation in the ligand-binding domain (LBD) of the human glucocorticoid receptor (hGR) causing generalized glucocorticoid resistance: the importance of the C terminus of hGR LBD in conferring transactivational activity. Journal of Clinical Endocrinology and Metabolism 2005 90 3696-3705.
10. Charmandari E, Kino T, Ichijo T, Zachman K, Alatsatianos A & Chrousos GP. Functional characterization of the natural human glucocorticoid receptor (hGR) mutants hGRalphaR477H and hGRalphaG679S associated with generalized glucocorticoid resistance. Journal of Clinical Endocrinology and Metabolism 2006 91 1535-1543.
11. Vottero A, Kino T, Combe H, Lecomte P & Chrousos GP. A novel, C-terminal dominant negative mutation of the GR causes familial glucocorticoid resistance through abnormal interactions with p160 steroid receptor coactivators. Journal of Clinical Endocrinology and Metabolism 2002 87 2658-2667.
12. De Lange P, Koper JW, Huizenga NA, Brinkmann AO, De Jong FH, Karl M, Chrousos GP & Lamberts SW. Differential hormone-dependent transcriptional activation and -repression by naturally occurring human glucocorticoid receptor variants. Molecular Endocrinology 1997 11 1156-1164.
13. Mendonca BB, Leite MV, De Castro M, Kino T, Elias LL, Bachega TA, Arnhold IJ, Chrousos GP & Latronico AC. Female pseudohermaphroditism caused by a novel homozygous missense mutation of the GR gene. Journal of Clinical Endocrinology and Metabolism 2002 87 1805-1809.
14. Kino T, Stauber RH, Resau JH, Pavlakis GN & Chrousos GP. Pathologic human GR mutant has a transdominant negative effect on the wild-type GR by inhibiting its translocation into the nucleus: importance of the ligand-binding domain for intracellular GR trafficking. Journal of Clinical Endocrinology and Metabolism 2001 86 5600-5608.
15. Garenc C, Couillard C, Laflamme N, Cadelis F, Gagne C, Couture P, Julien P & Bergeron J. Effect of the APOC3 Sst I SNP on fasting triglyceride levels in men heterozygous for the LPL P207L deficiency. European Journal of Human Genetics 2005 13 1159-1165.
16. Plaimauer B, Fuhrmann J, Mohr G, Wernhart W, Bruno K, Ferrari S, Konetschny C, Antoine G, Rieger M & Scheiflinger F. Modulation of ADAMTS13 secretion and specific activity by a combination of common amino acid polymorphisms and a missense mutation. Blood 2006 107 118-125.
17. Viswanathan PC, Benson DW & Balser JR. A common SCN5A polymorphism modulates the biophysical effects of an SCN5A mutation. Journal of Clinical Investigation 2003 111 341-346.
18. Nielsen KB, Sorensen S, Cartegni L, Corydon TJ, Doktor TK. Schroeder LD, Reinert LS, Elpeleg O. Krainer AR, Gregersen N, Kjems J & Andresen BS. Seemingly neutral polymorphic variants may confer immunity to splicing-inactivating mutations: a synonymous SNP in exon 5 of MCAD protects from deleterious mutations in a flanking exonic splicing enhancer. American Journal of Human Genetics 2007 80 416-432.
19. Chan SS, Longley MJ & Copeland WC. Modulation of the W748S mutation in DNA polymerase gamma by the E1143G polymorphismin mitochondrial disorders. Human Molecular Genetics 2006 15 3473-3483.
20. Van Rossum EF, Koper JW, Huizenga NA, Uitterlinden AG, Janssen JA, Brinkmann AO, Grobbee DE, De Jong FH, Van Duyn CM, Pols HA & Lamberts SW. A polymorphism in the glucocorticoid receptor gene, which decreases sensitivity to glucocorticoids in vivo, is associated with low insulin and cholesterol levels. Diabetes 2002 51 3128-3134.
21. Van Rossum EF & Lamberts SW. Polymorphisms in the glucocorticoid receptor gene and their associations with metabolic parameters and body composition. Recent Progress in Hormone Research 2004 59 333-357.
22. Van Rossum EF, Voorhoeve PG, Te Velde SJ, Koper JW, Delemarre-Van De Waal HA, Kemper HC & Lamberts SW. The ER22/23EK polymorphism in the glucocorticoid receptor gene is associated with a beneficial body composition and muscle strength in young adults. Journal of Clinical Endocrinology and Metabolism 2004 89 4004-4009.
23. Van Rossum EF, Roks PH, De Jong FH, Brinkmann AO, Pols HA, Koper JW & Lamberts SW. Characterization of a promoter polymorphism in the glucocorticoid receptor gene and its relationship to three other polymorphisms. Clinical Endocrinology 2004 61 573-581.
24. Van Rossum EF, Feelders RA, Van Den Beld AW, Uitterlinden AG, Janssen JA, Ester W, Brinkmann AO, Grobbee DE, De Jong FH, Pols HA, Koper JW & Lamberts SW Association of the ER22/23EK polymorphism in the glucocorticoid receptor gene with survival and C-reactive protein levels in elderly men. American Journal of Medicine 2004 117 158-162.
25. Russcher H, Smit P, Van Den Akker EL, Van Rossum EF, Brinkmann AO, De Jong FH, Lamberts SW & Koper JW. Two polymorphisms in the glucocorticoid receptor gene directly affect glucocorticoid-regulated gene expression. Journal of Clinical Endocrinology and Metabolism 2005 90 5804-5810.
26. Russcher H, Van Rossum EF, De Jong FH, Brinkmann AO, Lamberts SW & Koper JW. Increased expression of the glucocorticoid receptor-A translational isoform as a result of the ER22/23EK polymorphism. Molecular Endocrinology 2005 19 1687-1696.