Importance of genetic diagnosis of DAX-1 deficiency: Example from a large, multigenerational family

Hormone Research

Volumn 65, Issue 4, 2006, Pages 163-168

  Ostermann, Sandrine ^a   Salvi, Roberto ^a   Lang Muritano, Mariarosaria ^b   Voirol, Marie Jeanne ^a   Puttinger, Rudolf ^c   Gaillard, Rolf C ^a   Schoenle, Eugen ^b   Pralong, François P ^a  

^a LAUSANNE UNIVERSITY HOSPITAL   (Switzerland)

^b UNIVERSITY HOSPITAL ZURICH   (Switzerland)

^c Klinische Genetik   (Austria)

Author keywords

Adrenal hypoplasia congenital; Adrenal insufficiency; DAX 1; Genetic diseases; Mutation analysis

Indexed keywords

FLUDROCORTISONE; HYDROCORTISONE; NUCLEAR RECEPTOR DAX 1;

ADRENAL CORTEX INSUFFICIENCY; ADRENAL HYPOPLASIA CONGENITA; ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; DAX 1 DEFICIENCY; DISEASE TRANSMISSION; EXON; FEMALE; GENE DELETION; GENE MUTATION; HETEROZYGOTE; HORMONE SUBSTITUTION; HUMAN; MALE; MOLECULAR GENETICS; PRIORITY JOURNAL; X CHROMOSOME LINKED DISORDER;

ADRENAL INSUFFICIENCY; BASE SEQUENCE; CHILD; DEFICIENCY DISEASES; DNA; DNA-BINDING PROTEINS; EXONS; GENETIC DISEASES, X-LINKED; HORMONE REPLACEMENT THERAPY; HUMANS; MALE; MUTATION; PEDIGREE; POLYMERASE CHAIN REACTION; PRENATAL DIAGNOSIS; RECEPTORS, RETINOIC ACID; REPRESSOR PROTEINS; SEQUENCE DELETION;

EID: 33646091099     PISSN: 03010163     EISSN: None     Source Type: Journal    
DOI: 10.1159/000091831     Document Type: Article

References (36)

1. Sikl H: Addison's disease due to congenital adrenal hypoplasia. J Pathol Bateriol 1948;60: 323-326.
2. Bacon GE, Kelch RP: Congenital adrenal hyperplasia due to 21-hydroxylase deficiency: a review of current knowledge. J Endocrinol Invest 1979;2:93-100.
3. Laverty CR, Fortune DW, Beischer NA: Congenital idiopathic adrenal hypoplasia. Obstet Gynecol 1973;41:655-664.
4. Phelan JK, McCabe ER: Mutations in NR0B1 (DAX1) and NR5A1 (SF1) responsible for adrenal hypoplasia congenita. Hum Mutat 2001; 18:472-487.
5. Peter M, Viemann M, Partsch CJ, Sippell WG: Congenital adrenal hypoplasia: clinical spectrum, experience with hormonal diagnosis, and report on new point mutations of the DAX-1 gene. J Clin Endocrinol Metab 1998; 83:2666-2674.
6. Seminara SB, Achermann JC, Genel M, Jameson JL, Crowley WF Jr: X-linked adrenal hypoplasia congenita: a mutation in DAX1 expands the phenotypic spectrum in males and females. J Clin Endocrinol Metab 1999;84: 4501-4509.
7. Reutens AT, Achermann JC, Ito M, Gu WX, Habiby RL, Donohoue PA, Pang S, et al: Clinical and functional effects of mutations in the DAX-1 gene in patients with adrenal hypoplasia congenita. J Clin Endocrinol Metab 1999; 84:504-511.
8. Clipsham R, McCabe ER: DAX1 and its network partners: exploring complexity in development. Mol Genet Metab 2003;80:81-120.
9. Guo W, Mason JS, Stone CG Jr, Morgan SA, Madu SI, Baldini A, Lindsay EA, et al: Diagnosis of X-linked adrenal hypoplasia congenita by mutation analysis of the DAX1 gene. Jama 1995;274:324-330.
10. Muscatelli F, Strom TM, Walker AP, Zanaria E, Recan D, Meindl A, Bardoni B, et al: Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism. Nature 1994; 372:672-676.
11. Zanaria E, Muscatelli F, Bardoni B, Strom TM, Guioli S, Guo W, Lalli E, et al: An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenita. Nature 1994;372:635-641.
12. Guo W, Burris TP, Zhang YH, Huang BL, Mason J, Copeland KC, Kupfer SR, et al: Genomic sequence of the DAX1 gene: an orphan nuclear receptor responsible for X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism. J Clin Endocrinol Metab 1996; 81:2481-2486.
13. Ho J, Zhang YH, Huang BL, McCabe ER: NR0B1A: an alternatively spliced form of NR0B1. Mol Genet Metab 2004;83:330-336.
14. Guo W, Burris TP, McCabe ER: Expression of DAX-1, the gene responsible for X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism, in the hypothalamic-pituitary-adrenal/gonadal axis. Biochem Mol Med 1995;56:8-13.
15. Ikeda Y, Swain A, Weber TJ, Hentges KE, Zanaria E, Lalli E, Tamai KT, et al: Steroidogenic factor 1 and Dax-1 colocalize in multiple cell lineages: potential links in endocrine development. Mol Endocrinol 1996;10:1261-1272.
16. Swain A, Zanaria E, Hacker A, Lovell-Badge R, Camerino G: Mouse Dax1 expression is consistent with a role in sex determination as well as in adrenal and hypothalamus function. Nat Genet 1996;12:404-409.
17. Swain A, Narvaez V, Burgoyne P, Camerino G, Lovell-Badge R: Dax1 antagonizes Sry action in mammalian sex determination. Nature 1998;391:761-767.
18. Bardoni B, Zanaria E, Guioli S, Floridia G, Worley KC, Tonini G, Ferrante E, et al: A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal. Nat Genet 1994;7:497-501.
19. Zhang Z, Burch PE, Cooney AJ, Lanz RB, Pereira FA, Wu J, Gibbs RA, et al: Genomic analysis of the nuclear receptor family: new insights into structure, regulation, and evolution from the rat genome. Genome Res 2004;14: 580-590.
20. Abe S, Nakae J, Yasoshima K, Tajima T, Shinohara N, Murashita M, Satoh K, et al: Novel missense mutation (Leu466Arg) of the DAX1 gene in a patient with X-linked congenital adrenal hypoplasia. Am J Med Genet 1999;84: 87-89.
21. Achermann JC, Ito M, Silverman BL, Habiby RL, Pang S, Rosler A, Jameson JL: Missense mutations cluster within the carboxyl-terminal region of DAX-1 and impair transcriptional repression. J Clin Endocrinol Metab 2001;86: 3171-3175.
22. Zhang YH, Huang BL, Anyane-Yeboa K, Carvalho JA, Clemons RD, Cole T, De Figueiredo BC, et al: Nine novel mutations in NR0B1 (DAX1) causing adrenal hypoplasia congenita. Hum Mutat 2001;18:547.
23. Lalli E, Bardoni B, Zazopoulos E, Wurtz JM, Strom TM, Moras D, Sassone-Corsi P: A transcriptional silencing domain in DAX-1 whose mutation causes adrenal hypoplasia congenita. Mol Endocrinol 1997;11:1950-1960.
24. Ito M, Yu R, Jameson JL: DAX-1 inhibits SF-1-mediated transactivation via a carboxy-terminal domain that is deleted in adrenal hypoplasia congenita. Mol Cell Biol 1997;17: 1476-1483.
25. Salvi R, Gomez F, Fiaux M, Schorderet D, Jameson JL, Achermann JC, Gaillard RC, et al: Progressive onset of adrenal insufficiency and hypogonadism of pituitary origin caused by a complex genetic rearrangement within DAX-1. J Clin Endocrinol Metab 2002;87: 4094-4100.
26. Achermann JC, Gu WX, Kotlar TJ, Meeks JJ, Sabacan LP, Seminara SB, Habiby RL, et al: Mutational analysis of DAX1 in patients with hypogonadotropic hypogonadism or pubertal delay. J Clin Endocrinol Metab 1999;84:4497-4500.
27. Tabarin A, Achermann JC, Recan D, Bex V, Bertagna X, Christin-Maitre S, Ito M, et al: A novel mutation in DAX1 causes delayed-onset adrenal insufficiency and incomplete hypogonadotropic hypogonadism. J Clin Invest 2000; 105:321-328.
28. Habiby RL, Boepple P, Nachtigall L, Sluss PM, Crowley WF Jr, Jameson JL: Adrenal hypoplasia congenita with hypogonadotropic hypogonadism: evidence that DAX-1 mutations lead to combined hypothalmic and pituitary defects in gonadotropin production (see comments). J Clin Invest 1996;98:1055-1062.
29. Merke DP, Tajima T, Baron J, Cutler GB Jr: Hypogonadotropic hypogonadism in a female caused by an X-linked recessive mutation in the DAX1 gene. N Engl J Med 1999;340:1248-1252.
30. Achermann JC, Silverman BL, Habiby RL, Jameson JL: Presymptomatic diagnosis of X-linked adrenal hypoplasia congenita by analysis of DAX1. J Pediatr 2000;137:878-881.
31. Hay ID, Smail PJ, Forsyth CC: Familial cytomegalic adrenocortical hypoplasia: an X-linked syndrome of pubertal failure. Arch Dis Child 1981;56:715-721.
32. Wiltshire E, Couper J, Rodda C, Jameson JL, Achermann JC: Variable presentation of X-linked adrenal hypoplasia congenita. J Pediatr Endocrinol Metab 2001;14:1093-1096.
33. Yanase T, Takayanagi R, Oba K, Nishi Y, Ohe K, Nawata H: New mutations of DAX-1 genes in two Japanese patients with X-linked congenital adrenal hypoplasia and hypogonadotropic hypogonadism. J Clin Endocrinol Metab 1996;81:530-535.
34. Schwartz M, Blichfeldt S, Muller J: X-linked adrenal hypoplasia in a large Greenlandic family: detection of a missense mutation (N4401) in the DAX-1 gene; implication for genetic counselling and carrier diagnosis. Hum Genet 1997;99:83-87.
35. Loke KY, Larry KS, Lee YS, Peter M, Drop SL: Prepubertal diagnosis of X-linked congenital adrenal hypoplasia presenting after infancy. Eur J Pediatr 2000;159:671-675.
36. McCabe ER: Editorial: Vulnerability within a robust complex system-DAX-1 mutations and steroidogenic axis development. J Clin Endocrinol Metab 2002;87:41-43.