Congenital adrenal hyperplasia in a Nigerian child with a novel compound heterozygote mutation in CYP11B1 [1]

Clinical Endocrinology

Volumn 66, Issue 4, 2007, Pages 602-603

  Andrew, M ^a   Barr, M ^b   Davies, E ^b   Wallace, A M ^c   Connell, J M ^b   Ahmed, S F ^a  

^a ROYAL HOSPITAL FOR SICK CHILDREN   (United Kingdom)

^b UNIVERSITY OF GLASGOW   (United Kingdom)

^c GLASGOW ROYAL INFIRMARY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ALDOSTERONE; DEOXYCORTICOSTERONE;

CASE REPORT; CHROMOSOME ANALYSIS; CONCENTRATION (PARAMETERS); CONGENITAL ADRENAL HYPERPLASIA; DNA SEQUENCE; GENE MUTATION; GENETIC POLYMORPHISM; GENITAL SYSTEM; GYNECOMASTIA; HETEROZYGOSITY; HORMONE SYNTHESIS; HUMAN; KARYOTYPE 46,XX; LABORATORY TEST; LETTER; MALE; MUTATIONAL ANALYSIS; PREDICTION; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; RNA SPLICING; URINALYSIS;

ADRENAL HYPERPLASIA, CONGENITAL; CHILD, PRESCHOOL; HETEROZYGOTE; HUMANS; MALE; MUTATION; NIGERIA; RNA SPLICE SITES; STEROID 11-BETA-HYDROXYLASE;

EID: 33947249673     PISSN: 03000664     EISSN: 13652265     Source Type: Journal    
DOI: 10.1111/j.1365-2265.2007.02766.x     Document Type: Letter

References (6)

1. Rosler, A., Leiberman, E. & Cohen, T. (1992) High frequency of congenital adrenal hyperplasia (classic 11 beta-hydroxylase deficiency) among Jews from Morocco. American Journal of Medical Genetics, 42, 827-834.
2. Paperna, T., Gershoni-Baruch, R., Badarneh, K., Kasinetz, L. & Hochberg, Z. (2005) Mutations in CYP11B1 and congenital adrenal hyperplasia in Moroccan Jews. Journal of Clinical Endocrinology and Metabolism, 90, 5463-5465.
3. Rebhan, M., Chalifa-Caspi, V., Prilusky, J. & Lancet, D. (1997) Gene-Cards: encyclopedia for genes, proteins and diseases. Weizmann Institute of Science, Bioinformatics Unit and Genome Center (Rehovot, Israel), 1997. GeneCard for CYP11b1 (last update: 11 March 2006) 〈http://www.genecards. org/cgibin/carddisp.pl?gene=[cyp11b1]〉 (last accessed: 1 August 2006).
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5. White, P.C., Curnow, K.M. & Pascoe, L. (1994) Disorders of steroid 11beta-hydroxylase isozymes. Endocrine Reviews, 15, 421-438.
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