Novel missense mutation (Leu466Arg) of the DAX1 gene in a patient with X-linked congenital adrenal hypoplasia

American Journal of Medical Genetics

Volumn 84, Issue 2, 1999, Pages 87-89

  Abe, Shuji ^a   Nakae, Jun ^a   Yasoshima, Kouichi ^b   Tajima, Toshihiro ^a   Shinohara, Nozomi ^a   Murashita, Mari ^a   Satoh, Kouhei ^a   Koike, Akemi ^b   Takahashi, Yutaka ^b   Fujieda, Kenji ^a  

^a HOKKAIDO UNIVERSITY   (Japan)

^b Tonan Hospital   (Japan)

Author keywords

C terminal end; DAX1; Missense mutation; X linked AHC

Indexed keywords

CELL NUCLEUS RECEPTOR;

ADRENAL INSUFFICIENCY; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CHILD; CODON; HUMAN; MISSENSE MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; X LINKED ADRENAL HYPOPLASIA;

ADRENAL INSUFFICIENCY; DNA-BINDING PROTEINS; HUMANS; INFANT; LINKAGE (GENETICS); MALE; MUTATION, MISSENSE; POINT MUTATION; RECEPTORS, RETINOIC ACID; REPRESSOR PROTEINS; SEQUENCE ANALYSIS, DNA; TRANSCRIPTION FACTORS; X CHROMOSOME;

EID: 0032922902     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19990521)84:2<87::AID-AJMG1>3.0.CO;2-7     Document Type: Article

References (13)

1. Bae DS, Schaefer ML, Partan BW, Muglia L. 1996. Characterization of the mouse DAX-1 gene reveals evolutionary conservation of a unique amino-terminal motif and widespread expression in mouse tissue. Endocrinology 137:3921-3927.
2. 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.
3. Ladias JAA, Karathanatis SK. 1991. Regulation of the apolipoprotein A1 gene by ARP-1, a novel member of the steroid receptor superfamily. Science 251:561-565.
4. Leid M, Kastiner P, Lyons R, Nakshatri H, Saunders M, Zacharewski T, Chen JY, Staub A, Garnier JM, Mader S, Chambon P. 1992. Purification, cloning, and RXR identity of the HeLa cell factor with which RAR or TR heterodomerizes to bind target sequences effeciency. Cell 68: 377-395.
5. Mangelsdorf DJ, Borgmeyer U, Heyman RA, Zhou JY, Ong ES, Oro AE, Kakizuka A, Evans RM. 1992. Characterization of three RXR genes that mediate the action of 9-cis retinoic acid. Genes Dev 6:329-344.
6. Migeon CJ, Donohue P. 1994. Adrenal disorders. In: Kappy MS, Blizzard RM, Migeon C, editors. Wilkins - the diagnosis and treatment of endocrine disorders in childhood and adolescence. 4th ed. Springfield, IL: Thomas. p 717-856.
7. Mlozik M, Hiromi Y, Weber U, Goodman CS, Rubin GM. 1990. The Drosophila seven-up gene, a member of the steroid receptor gene superfamily, controls photoreceptor cell fates. Cell 60:211-224.
8. Muscatelli F, Strom TM, Walker AP, Zanaria E, Recan D, Meindl A, Bardoni B, Guioli S, Zehetner G, Rabl W, Schwarz HP, Kaplan J-C, 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.
9. 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 Endocrinol Metab 81:3680-3685.
10. OMIM (Online Mendelian Inheritance in Man). 1997. Adrenal hypoplasia, congenital; AHC *300200. www3.mcbi.nlm.mih.gov: 80/omim/search/omim.htm
11. Oro AE, McKeown M, Evans RM. 1990. Relationship between the product of the Drosophila ultraspiracle locus and the vertebrate retinoic X receptor. Nature 347:298-301.
12. Wang L-H, Tsai SY, Cook RG, Beattie WG, Tsai MJ, O'Malley BW. 1989. COUP transcription factor is a member of the steroid receptor superfamily. Nature 340:163-166.
13. 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.