Erratum: Inappropriate tall stature and renal ectopy in a male patient with X-linked congenital adrenal hypoplasia due to a novel missense mutation in the DAX-1 gene (American Journal of Medical Genetics DOI: 10.1002/ajmg.a.30670);Inappropriate tall stature and renal ectopy in a male patient with X-linked congenital adrenal hypoplasia due to a novel missense mutation in the DAX-1 gene

American Journal of Medical Genetics

Volumn 135 A, Issue 1, 2005, Pages 72-74

  Franzese, Adriana ^a   Brunetti Pierri, Nicola ^a   Spadaro, Raffaella ^a   Mukai, Tokuo ^b   Valerio, Giuliana ^c  

^a UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^b ASAHIKAWA MEDICAL COLLEGE   (Japan)

^c UNIVERSITY OF NAPLES PARTHENOPE   (Italy)

Author keywords

Congenital adrenal hypoplasia; DAX 1; Missense mutation; Renal ectopy; Tall stature

Indexed keywords

NUCLEAR RECEPTOR DAX 1;

ADOLESCENT; ADRENAL GLAND MALFORMATION; ARTICLE; CARBOXY TERMINAL SEQUENCE; CASE REPORT; CLINICAL FEATURE; CONGENITAL ADRENAL HYPOPLASIA; DAX 1 GENE; ECTOPIC KIDNEY; GENE; GENE LOCATION; GENE MAPPING; GENE MUTATION; HUMAN; MALE; PRIORITY JOURNAL; TALL STATURE; X CHROMOSOME LINKED DISORDER;

EID: 18244387456     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30782     Document Type: Erratum

References (19)

1. 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.
2. Caron P, Imbeaud S, Bennet A, Plantavid M, Camerino G, Rochiccioli P. 1999. Combined hypothalamic-pituitary-gonadal defect in a hypogonadic man with a novel mutation in the DAX-1 gene. J Clin Endocrinol Metab 84:3563-3569.
3. Habiby RL, Boepple P, Nachtigall L, Sluss PM, Crowley WF Jr, Jameson JL. 1996. Adrenal hypoplasia congenita with hypogonadotropic hypogonadism: Evidence that DAX-1 mutations lead to combined hypothalamic and pituitary defects in gonadotropin production. J Clin Invest 98:1055-1062.
4. Hill LM, Grzybek P, Mills A, Hogge WA. 1994. Antenatal diagnosis of fetal pelvic kidneys. Obstet Gynecol 83:333-336.
5. Jones D, Kay M, Craigen W, McCabe E, Hawkins H, Dominey A. 1995. Coal-black hyperpigmentation at birth in a child with congenital adrenal hypoplasia. J Am Acad Derm 33:323-326.
6. Lalli E, Sassone-Corsi P. 2003. DAX-1, an unusual orphan receptor at the crossroads of steroidogenic function and sexual differentiation. Mol Endocrinol 17(8):1445-1453.
7. 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(12):8225-8230.
8. McCabe ERB. 2001. Adrenal hypoplasia and aplasias. In: Scriver CR, Beaudet AL, Sly W, Valle SD, editors. The metabolic and molecular bases of inherited disease, New York: McGraw-Hill, Inc., pp 4263-4274.
9. Muscatelli F, Strom TM, Walker AP, Zanaria E, Recan D, Meindl A, Bardoni B, Guioli S, Zehetner G, Rabl W, Schwarz H P, 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.
10. Nakae J, Tajima T, Kusuda S, Kohda N, Okabe T, Shinohara N, Kato M, Murashita M, Mukai T, Imanaka K, Fujieda K. 1996. Truncation at the C-terminus of the DAX-1 protein impairs its biological actions in patients with X-linked adrenal hypoplasia congenita. J Clin Endocr Metab 81:3680-3685.
11. Peter M, Viemann M, Partsch CJ, Sippell WG. 1998. Congenital adrenal hypoplasia: Clinical spectrum, experience with hormonal diagnosis, and report on new point mutations of the DAX-1 gene. J Clin Endocr Metab 83:2666-2674.
12. Phelan JK, McCabe ERB. 2001. Mutations in NROB1 (DAX1) and NR5A1 (SF1) responsible for adrenal hypoplasia congenita. Hum Mutat 18:472-487.
13. Reutens AT, Achermann JC, Ito M, Gu WX, Habiby RL, Donohoue PA, Pang S, Hindmarsh PC, Jameson JL. 1999. Clinical and functional effects of mutations in the DAX-1 gene in patients with adrenal hypoplasia congenita. J Clin Endocr Metab 84:504-511.
14. Salvi R, Gomez F, Schorderet D, Jameson JL, Acherman JC, Gaillard RC, Pralong FP. 2002. 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.
15. Swain A, Zanaria E, Hacker A, Lovell-Badge R, Camerino G. 1996. Mouse DAX-1 expression is consistent with a role in sex determination as well as in adrenal and hypothalamus function. Nat Genet 12:404-409.
16. Walker AP, Chelly J, Love DE, Brush YI, Recan D, Chaussain JL, Oley CA, Connor JM, Yates J, Price DA, et al. 1992. A YAC contig in Xp21containing the adrenal hypoplasia congenita and glycerol kinase deficiency genes. Hum Mol Genet 1:579-585.
17. Zachmann M, Illig R, Prader A. 1980. Gonadotropin deficiency and cryptorchidism in three prepubertal brothers with congenital adrenal hypoplasia. J Pediatr 97:255-257.
18. Zanaria E, Muscatelli F, Bardoni B, Strom TM, Guioli S, Guo W, Lalli E, Moser C, Walker AP, McCabe ERB, 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.
19. Zenteno JC, Mendez JP, Maya-Nunez G, Ulloa-Aguirre A, Kofman-Alfaro S. 1999. Renal abnormalities in patients with Kallmann syndrome. BJU Int 83:383-386.