A novel mutation in DAX1 (NR0B1) causing X-linked adrenal hypoplasia congenita: Clinical, hormonal and genetic analysis

Endocrine

Volumn 36, Issue 2, 2009, Pages 275-280

  García Malpartida, Katherine ^a   Gómez Balaguer, Marcelino ^a   Solá Izquierdo, Eva ^a,b   Fuentes Pardilla, M José ^b,c   Jover Fernández, Ana ^a   Sanz Ruiz, Isabel ^a   Hernández Mijares, Antonio ^a,b,d  

^a HOSPITAL UNIVERSITARIO DR PESET   (Spain)

^b UNIVERSITY OF VALENCIA   (Spain)

^c HOSPITAL CLÍNICO UNIVERSITARIO   (Spain)

^d INSTITUTO DE SALUD CARLOS III   (Spain)

Author keywords

Adrenal insufficiency; DAX 1 protein; Hypogonadism; Hypoplasia; X linked genetic diseases

Indexed keywords

NR0B1 PROTEIN, HUMAN; NUCLEAR RECEPTOR DAX 1;

ADOLESCENT; ADRENAL GLAND; ADRENAL INSUFFICIENCY; ARTICLE; CASE REPORT; CONGENITAL MALFORMATION; FAMILY; FEMALE; GENETICS; HUMAN; MALE; NEWBORN; NUCLEOTIDE SEQUENCE; PATHOLOGY; PEDIGREE; X CHROMOSOME LINKED DISORDER;

ADOLESCENT; ADRENAL GLANDS; ADRENAL INSUFFICIENCY; DAX-1 ORPHAN NUCLEAR RECEPTOR; DNA MUTATIONAL ANALYSIS; FAMILY; FEMALE; GENETIC DISEASES, X-LINKED; HUMANS; INFANT, NEWBORN; MALE; PEDIGREE;

EID: 73349105590     PISSN: 1355008X     EISSN: 15590100     Source Type: Journal    
DOI: 10.1007/s12020-009-9232-9     Document Type: Article

References (22)

1. D.I. Shulman, M.R. Palmert, S.F. Kemp, Lawson Wilkins Drug and Therapeutics Committee, Adrenal insufficiency: still a cause of morbidity and death in childhood. Pediatrics 119, 484-494 (2007)
2. F. Muscatelli, T.M. Strom, A.P. Walker, E. Zanaria, D. Récan, A. Meindl, B. Bardoni, S. Guioli, G. Zehetner, W. Rabl, H.P. Schwarz, J.C. Kaplan, G. Camerino, T. Meitinger, A.P. Monaco, Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism. Nature 372, 672-676 (1994)
3. J.K. Phelan, E.R. McCabe, Mutations in NR0B1 (DAX1) and NR5A1 (SF1) responsible for adrenal hypoplasia congenita. Hum. Mutat. 18, 472-487 (2001)
4. R.L. Habiby, P. Boepple, L. Nachtigall, P.M. Sluss, W.F. Crowley Jr, J.L. Jameson, 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 (1996)
5. A.T. Reutens, J.C. Achermann, M. Ito, M. Ito, W.X. Gu, R.L. Habiby, P.A. Donohoue, S. Panq, P.C. Hindmarsh, J.L. Jameson, Clinical and functional effects of mutations in the DAX-1 gene in patients with adrenal hypoplasia congenita. J. Clin. Endocrinol. Metab. 84, 504-511 (1999)
6. G. Mantovani, G. Ozisik, J.C. Achermann, R. Romoli, G. Borretta, L. Persani, A. Spada, J.L. Jameson, P. Beck-Peccoz, Hypogonadotropic hypogonadism as a presenting feature of lateonset X-linked adrenal hypoplasia congenita. J. Clin. Endocrinol. Metab. 87, 44-48 (2002)
7. G. Ozisik, G. Mantovani, J.C. Achermann, L. Persani, A. Spada, J. Weiss, P. Beck-Peccoz, J.L. Jameson, 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 (2003)
8. R. Salvi, F. Gomez, M. Fiaux, D. Schorderet, J.L. Jameson, J.C. Achermann, R.C. Gaillard, F.P. Pralong, Progressive onset of adrenal insufficiency and hypogonadism of pituitary origin caused by a complex genetic rearrangement within DAX-1. J. Clin. Endocrinol. Metab. 87, 4094-4100 (2002)
9. J.C. Achermann, J.J. Meeks, J.L. Jameson, Phenotypic spectrum of mutations in DAX-1 and SF-1. Mol. Cell. Endocrinol. 185, 17-25 (2001)
10. A. Tabarin, J.C. Achermann, D. Recan, V. Bex, X. Bertagna, S. Christin-Maitre, M. Ito, J.L. Jameson, P. Bouchard, A novel mutation in DAX1 causes delayed onset adrenal insufficiency and incomplete Hypogonadotropic hypogonadism. J. Clin. Invest. 105, 321-328 (2000)
11. J.H. Bassett, D.J. O'Halloran, G.R. Williams, C.G. Beardwell, S.M. Shalet, R.V. Thakker, Novel DAX1 mutations in X-linked adrenal hypoplasia congenita and hypogonadotrophic hypogonadism. Clin. Endocrinol. 50, 69-75 (1999)
12. K. Okuhara, S. Abe, T. Kondo, K. Fujita, N. Koda, H. Mochizuki, K. Fujieda, T. Tajima, Four Japanese patients with adrenal hypoplasia congenita and hypogonadotropic hypogonadism causedby DAX-1 gene mutations: mutant DAX-1 failed to repress steroidogenic acute regulatory protein (StAR) and luteinizing hormone beta-subunit gene promoter activity. Endocr. J. 55, 97-103 (2008)
13. S. Domenice, A.C. Latronico, V.N. Brito, I.J. Arnhold, F. Kok, B.B. Mendonca, Adrenocorticotropin-dependent precocious puberty of testicular origin in a boy with X-linked adrenal hypoplasia congenita due to a novel mutation in the DAX1 gene. J. Clin. Endocrinol. Metab. 86, 4068-4071 (2001)
14. J.H. Choi, Y.L. Shin, G.H. Kim, Y. Kim, S. Park, J.Y. Park, C. Oh, H.W. Yoo, Identification of novel mutations of the DAX-1 gene in patients with X-linked adrenal hypoplasia congenita. Horm. Res. 63, 200-205 (2005)
15. V. Calvari, M.G. Alpigiani, E. Poggi, B. Podesta, G. Camerino, R. Lorini, X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism: report on new mutation of the DAX-1 gene in two siblings. J. Endocrinol. Invest. 29, 41-47 (2006)
16. H. Sikl, Addison's disease due to congenital adrenal hypoplasia of the adrenals in an infant aged 33 days. J. Pathol. Bacteriol. 60, 323-326 (1948)
17. I.D. Hay, P.J. Smail, C.C. Forsyth, Familial cytomegalic adrenocortical hypoplasia: an X-linked syndrome of pubertal failure. Arch. Dis. Child. 56, 715-721 (1981)
18. B.A. Burke, M.R. Wick, R. King, T. Thompson, J. Hansen, B.T. Darrae, U. Francke, W.K. Seltzer, E.R. McCabe, B.W. Scheithauer, Congenital adrenal hypoplasia and selective absence of pituitary luteinizing hormone: a new autosomal recessive syndrome. Am. J. Med. Genet. 31, 75-97 (1998)
19. E. Zanaria, F. Muscatelli, B. Bardoni, T.M. Strom, S. Guioli, W. Guo, E. Lalli, C. Moser, A.P. Walker, E.R. McCabe, T. Meitinger, A.P. Monaco, P. Sassone-Corsi, G. Camerino, An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenita. Nature 372, 635-641 (1994)
20. S.B. Seminara, J.C. Achermann, M. Genel, J.L. Jameson, W.F. Crowley, X-linked adrenal hypoplasia congenita: a mutation in DAX1 expands the phenotypic spectrum in males and females. J. Clin. Endocrinol. Metab. 84, 4501-4509 (1999)
21. L. Lin, W.X. Gu, G. Ozisik, W.S. To, C.J. Owen, J.L. Jameson, J.C. Achermann, 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 (2006)
22. J.C. Achermann, W.X. Gu, T.J. Kotlar, J.J. Meeks, L.P. Sabacan, S.B. Seminara, R.L. Habiby, P.C. Hindmarsh, D.P. Bick, R.J. Sherins, W.F. Crowley, R.C. Layman, J.L. Jameson, Mutational analysis of DAX1 in patients with hypogonadotropic hypogonadism or pubertal delay. J Clin Endocrinol Metab 84, 4497-4500 (1999)