Clinical case seminar: An amino-terminal DAX1 (NROB1) missense mutation associated with isolated mineralocorticoid deficiency

Journal of Clinical Endocrinology and Metabolism

Volumn 92, Issue 3, 2007, Pages 755-761

  Verrijn Stuart, A A ^a   Ozisik, G ^b,d   De Vroede, M A ^a   Giltay, J C ^a   Sinke, R J ^a   Peterson, T J ^b   Harris, R M ^b   Weiss, J ^b   Jameson, J L ^b,c  

^a UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^b NORTHWESTERN UNIVERSITY   (United States)

^c NORTHWESTERN MEMORIAL HOSPITAL   (United States)

^d GATA HAYDARPASA TRAINING HOSPITAL   (Turkey)

Author keywords

[No Author keywords available]

Indexed keywords

MINERALOCORTICOID; MUTANT PROTEIN; NUCLEAR RECEPTOR DAX 1; DAX-1 PROTEIN; DNA BINDING PROTEIN; REPRESSOR PROTEIN; RETINOIC ACID RECEPTOR; UNCLASSIFIED DRUG;

ADRENAL DISEASE; AMINO TERMINAL SEQUENCE; ARTICLE; CASE REPORT; CONGENITAL ADRENAL HYPOPLASIA; CONTROLLED STUDY; GENE EXPRESSION; GENE FUNCTION; GENETIC TRANSFECTION; HEMIZYGOSITY; HORMONE DEFICIENCY; HUMAN; IN VITRO STUDY; MALE; MINERALOCORTICOID DEFICIENCY; MISSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL; SCHOOL CHILD; BIOLOGICAL MODEL; CELL CULTURE; CHILD; GENETICS; MOLECULAR CLONING; PEDIGREE; PROTEIN TERTIARY STRUCTURE;

CELLS, CULTURED; CHILD; CLONING, MOLECULAR; DNA-BINDING PROTEINS; HUMANS; MALE; MINERALOCORTICOIDS; MODELS, BIOLOGICAL; MUTATION, MISSENSE; PEDIGREE; PROTEIN STRUCTURE, TERTIARY; RECEPTORS, RETINOIC ACID; REPRESSOR PROTEINS; TRANSFECTION;

EID: 33947506472     PISSN: 0021972X     EISSN: 0021972X     Source Type: Journal    
DOI: 10.1210/jc.2005-2429     Document Type: Article

References (29)

1. Muscatelli F, Strom TM, Walker AP, Zanaria E, Recan D, Meindl A, Bardoni B, Guioli S, Zehetner G, Rabl W, Schwarz HP, Kaplan JC, Camerino G, Meitinger T, Monaco AP 1994 Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism. Nature 372:672-676
2. Zanaria E, Muscatelli F, Bardoni B, Strom TM, Guioli S, Guo W, Lalli E, Moser C, Walker AP, McCabe ER, Meitinger T, Monaco AP, Sassone-Corsi P, Camerino G 1994 An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenita. Nature 372:635-641
3. Ito M, Yu R, Jameson JL 1997 DAX-1 inhibits SF-1-mediated transactivation via a carboxy-terminal domain that is deleted in adrenal hypoplasia congenita. Mol Cell Biol 17:1476-1483
4. Zhang H, Thomsen JS, Johansson L, Gustafsson JA, Treuter E 2000 DAX-1 functions as an LXXLL-containing corepressor for activated estrogen receptors. J Biol Chem 275:39855-39859
5. Lalli E, Ohe K, Hindelang C, Sassone-Corsi P 2000 Orphan receptor DAX-1 is a shuttling RNA binding protein associated with polyribosomes via mRNA. Mol Cell Biol 20:4910-4921
6. Habiby RL, Boepple P, Nachtigall L, Sluss PM, Crowley Jr WF, Jameson JL 1996 Adrenal hypoplasia congenita with hypogonadotropic hypogonadism: evidence that DAX-1 mutations lead to combined hypothalmic and pituitary defects in gonadotropin production. J Clin Invest 98:1055-1062
7. Seminara SB, Achermann JC, Genel M, Jameson JL, Crowley Jr WF 1999 X-linked adrenal hypoplasia congenita: a mutation in DAX1 expands the phenotypic spectrum in males and females. J Clin Endocrinol Metab 84:4501-4509
8. Phelan JK, McCabe ER 2001 Mutations in NR0B1 (DAX1) and NR5A1 (SF1) responsible for adrenal hypoplasia congenita. Hum Mutat 18:472-487
9. Krone N, Riepe FG, Dorr HG, Morlot M, Rudorff KH, Drop SL, Weigel J, Pura M, Kreze A, Boronat M, de Luca F, Tiulpakov A, Partsch CJ, Peter M, SippellWG2005 Thirteen novel mutations in the NR0B1 (DAX1) gene as cause of adrenal hypoplasia congenita. Hum Mutat 25:502-503
10. Lehmann SG, Lalli E, Sassone-Corsi P 2002 X-linked adrenal hypoplasia congenita is caused by abnormal nuclear localization of the DAX-1 protein. Proc Natl Acad Sci USA 99:8225-8230
11. Achermann JC, Gu WX, Kotlar TJ, Meeks JJ, Sabacan LP, Seminara SB, Habiby RL, Hindmarsh PC, Bick DP, Sherins RJ, Crowley Jr WF, Layman LC, Jameson JL 1999 Mutational analysis of DAX1 in patients with hypogonadotropic hypogonadism or pubertal delay. J Clin Endocrinol Metab 84:4497-4500
12. Tabarin A, Achermann JC, Recan D, Bex V, Bertagna X, Christin-Maitre S, Ito M, Jameson JL, Bouchard P 2000 A novel mutation in DAX1 causes delayed-onset adrenal insufficiency and incomplete hypogonadotropic hypogonadism. J Clin Invest 105:321-328
13. Achermann JC, Ito M, Silverman BL, Habiby RL, Pang S, Rosler A, Jameson JL 2001 Missense mutations cluster within the carboxyl-terminal region of DAX-1 and impair transcriptional repression. J Clin Endocrinol Metab 86:3171-3175
14. Ozisik G, Mantovani G, Achermann JC, Persani L, Spada A, Weiss J, Beck-Peccoz P, Jameson JL 2003 An alternate translation initiation site circumvents an amino-terminal DAX1 nonsense mutation leading to a mild form of X-linked adrenal hypoplasia congenita. J Clin Endocrinol Metab 88:417-423
15. Mantovani G, Ozisik G, Achermann JC, Romoli R, Borretta G, Persani L, Spada A, Jameson JL, Beck-Peccoz P 2002 Hypogonadotropic hypogonadism as a presenting feature of late-onset x-linked adrenal hypoplasia congenita. J Clin Endocrinol Metab 87:44-48
16. Halvorson LM, Ito M, Jameson JL, Chin WW 1998 Steroidogenic factor-1 and early growth response protein 1 act through two composite DNA binding sites to regulate luteinizing hormone β-subunit gene expression. J Biol Chem 273:14712-14720
17. Suzuki T, Kasahara M, Yoshioka H, Morohashi K, Umesono K 2003 LXXLL-related motifs in Dax-1 have target specificity for the orphan nuclear receptors Ad4BP/SF-1 and LRH-1. Mol Cell Biol 23:238-249
18. Achermann JC, Meeks JJ, Jameson JL 2001 Phenotypic spectrum of mutations in DAX-1 and SF-1. Mol Cell Endocrinol 185:17-25
19. Bernard P, Ludbrook L, Queipo G, Dinulos MB, Kletter GB, Zhang YH, Phelan JK, McCabe ER, Harley VR, Vilain E 2006 A familial missense mutation in the hinge region of DAX1 associated with late-onset AHC in a prepubertal female. Mol Genet Metab 88:272-279
20. Scriver CR, Waters PJ 1999 Monogenic traits are not simple: lessons from phenylketonuria. Trends Genet 15:267-272
21. Dipple KM, McCabe ER 2000 Phenotypes of patients with "simple" Mendelian disorders are complex traits: thresholds, modifiers, and systems dynamics. Am J Hum Genet 66:1729-1735
22. Geffner ME, Su F, Ross NS, Hershman JM, Van Dop C, Menke JB, Hao E, Stanzak RK, Eaton T, Samuels HH, Usala SJ 1993 An arginine to histidine mutation in codon 311 of the C-erbA β gene results in a mutant thyroid hormone receptor that does not mediate a dominant negative phenotype. J Clin Invest 91:538-546
23. Kitajima K, Nagaya T, Jameson JL 1995 Dominant negative and DNA-binding properties of mutant thyroid hormone receptors that are defective in homodimerization but not heterodimerization. Thyroid 5:343-353
24. Smith CA, Clifford V, Western PS, Wilcox SA, Bell KS, Sinclair AH 2000 Cloning and expression of a DAX1 homologue in the chicken embryo. J Mol Endocrinol 24:23-32
25. Gummow BM, Scheys JO, Cancelli VR, Hammer GD 2006 Reciprocal regulation of a glucocorticoid receptor-steroidogenic factor-1 transcription complex on the Dax-1 promoter by glucocorticoids and adrenocorticotropic hormone in the adrenal cortex. Mol Endocrinol 20:2711-2723
26. Heery DM, Kalkhoven E, Hoare S, Parker MG 1997 A signature motif in transcriptional co-activators mediates binding to nuclear receptors. Nature 387:733-736
27. Choi JH, Shin YL, Kim GH, Kim Y, Park S, Park JY, Oh C, Yoo HW 2005 Identification of novel mutations of the DAX-1 gene in patients with X-linked adrenal hypoplasia congenita. Horm Res 63:200-205
28. Lin L, Gu WX, Ozisik G, To WS, Owen CJ, Jameson JL, Achermann JC 2006 Analysis of DAX1 (NR0B1) and steroidogenic factor-1 (NR5A1) in children and adults with primary adrenal failure: ten years' experience. J Clin Endocrinol Metab 91:3048-3054
29. Peter M, Partsch CJ, Sippell WG 1995 Multisteroid analysis in children with terminal aldosterone biosynthesis defects. J Clin Endocrinol Metab 80:1622-1627