Novel mutation, c.1234delA, in the DAX1 gene in congenital adrenal hypoplasia

Clinica Chimica Acta

Volumn 374, Issue 1-2, 2006, Pages 151-152

  Lam, Ching Wan ^a   Cheng, Anna Wai Fun ^b   Poon, Wing Tat ^b   Yuen, Yuet Ping ^b   Huen, Kwai Fun ^c  

^a CHINESE UNIVERSITY OF HONG KONG   (Hong Kong)

^b PRINCESS MARGARET HOSPITAL   (Hong Kong)

^c TSEUNG KWAN O HOSPITAL   (Hong Kong)

Author keywords

[No Author keywords available]

Indexed keywords

FLUDROCORTISONE; HYDROCORTISONE; NUCLEAR RECEPTOR DAX 1;

ADRENAL GLAND MALFORMATION; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHINESE; CLINICAL FEATURE; CONGENITAL ADRENAL HYPOPLASIA; DNA EXTRACTION; DNA SEQUENCE; GENE AMPLIFICATION; GENE EXPRESSION; GENE MUTATION; GENETIC ANALYSIS; GENETIC SCREENING; GENETIC TRANSCRIPTION; HORMONE DETERMINATION; HUMAN; HYPOGONADOTROPIC HYPOGONADISM; LETTER; MALE; POLYMERASE CHAIN REACTION; PREVENTION STUDY; PRIORITY JOURNAL; X CHROMOSOME LINKED DISORDER;

ADRENAL INSUFFICIENCY; BASE SEQUENCE; CHINA; DAX-1 ORPHAN NUCLEAR RECEPTOR; DNA-BINDING PROTEINS; HUMANS; MOLECULAR SEQUENCE DATA; MUTATION; RECEPTORS, RETINOIC ACID; REPRESSOR PROTEINS;

EID: 33750007915     PISSN: 00098981     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.cca.2006.03.021     Document Type: Letter

References (7)

1. Muscatelli F., et al. Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism. Nature 372 (1994) 672-676
2. Tabarin A., et al. A novel mutation in DAX1 causes delayed-onset adrenal insufficiency and incomplete hypogonadotropic hypogonadism. J Clin Invest 105 (2000) 321-328
3. Mantovani G., et al. Hypogonadotropic hypogonadism as a presenting feature of late-onset X-linked adrenal hypoplasia congenita. J Clin Endocrinol Metab 87 (2002) 44-48
4. Iyer A.K., and McCabe E.R.B. Molecular mechanisms of DAX1 action. Mol Genet Metab 83 (2004) 60-73
5. Peter M., et al. Congenital adrenal hypoplasia: clinical spectrum, experience with hormonal diagnosis, and report on new point mutations of the DAX-1 gene. J Clin Endocrinol Metab 83 (1998) 2666-2674
6. Wang J., Killinger D.W., and Hegele R.A. A microdeletion within DAX-1 in X-linked adrenal hypoplasia congenita and hypogonadotrophic hypogonadism. J Investig Med 47 (1999) 232-235
7. Ito M., Yu R., and Jameson J.L. DAX-1 inhibits SF-1-mediated transactivation via a carboxy-terminal domain that is deleted in adrenal hypoplasia congenita. Mol Cell Biol 17 (1997) 1476-1483