Homozygous complete deletion of CYP21A2 causes a simple virilizing phenotype in an Azeri child

Asian Biomedicine

Volumn 5, Issue 6, 2011, Pages 889-892

  Rabbani, Bahareh ^a   Akbari, Mohammad Taghi ^a   Mahdieh, Nejat ^a,b   Zaridust, Ehya ^c   Ashtiani, Mohammad Taghi Haghi ^c   Lee, Hsien Hsiung ^d   Auchus, Richard ^e   Rabbani, Ali ^b,c  

^a TARBIAT MODARES UNIVERSITY   (Iran)

^b TEHRAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^c TEHRAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^d CHINA MEDICAL UNIVERSITY   (Taiwan)

^e UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

Author keywords

Azeri family; Congenital adrenal hyperplasia; Simple virilizing

Indexed keywords

CYTOCHROME P450; CYTOCHROME P450 21A2; UNCLASSIFIED DRUG;

ALLELE; ARTICLE; CASE REPORT; CHILD; GENE DELETION; GENE DOSAGE; GENOTYPE PHENOTYPE CORRELATION; HOMOZYGOSITY; HUMAN; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; SALT WASTING; VIRILIZATION;

EID: 79959262605     PISSN: 19057415     EISSN: 1875855X     Source Type: Journal    
DOI: 10.5372/1905-7415.0505.042     Document Type: Article

References (15)

1. White PC, Speiser PW. Congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Endocr Rev. 2000; 21:245-91. (Pubitemid 32275589)
2. Higashi Y, Yoshioka H, Yamane M, Gotoh O, Fujii- Kuriyama Y. Complete nucleotide sequence of two steroid 21-hydroxylase genes tandemly arranged in human chromosome: a pseudogene and a genuine gene. Proc Natl Acad Sci USA. 1986; 83:2841-5. (Pubitemid 16041759)
3. Wedell A, Thilen A, Ritzen EM, Stengler B, Luthman H. Mutational spectrum of the steroid 21-hydroxylase gene in Sweden: implications for genetic diagnosis and association with disease manifestation. J Clin Endocrinol Metab. 1994; 78:1145-52. (Pubitemid 24143038)
4. Krone N, Braun A, Roscher AA, Knorr D, Schwarz HP. Predicting phenotype in steroid 21-hydroxylase deficiency? Comprehensive genotyping in 155 unrelated, well defined patients from southern Germany. J Clin Endocrinol Metab. 2000; 85:1059-65. (Pubitemid 32269350)
5. Wilson RC, Nimkarn S, Dumic M, Obeid J, Azar MR, Najmabadi H, et al. Ethnic-specific distribution of mutations in 716 patients with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency. Mol Genet Metab. 2007; 90:414-21. (Pubitemid 46484429)
6. Lee HH. Chimeric CYP21P/CYP21 and TNXA/TNXB genes in the RCCX module. Mol Genet Metab. 2005; 84:4-8.
7. Wilson RC, Mercado AB, Cheng KC, New MI. Steroid 21-hydroxylase deficiency: genotype may not predict phenotype. J Clin Endocrinol Metab. 1995; 80:2322-9.
8. ]L'Allemand D, Tardy V, Gruters A, Schnabel D, Krude H, Morel Y. How a patient homozygous for a 30-kb deletion of the C4-CYP 21 genomic region can have a nonclassic form of 21-hydroxylase deficiency. J Clin Endocrinol Metab. 2000; 85:4562-7. (Pubitemid 32157634)
9. Wilson RC, Wei JQ, Cheng KC, Mercado AB, New MI. Rapid deoxyribonucleic acid analysis by allele-specific polymerase chain reaction for detection of mutations in the steroid 21-hydroxylase gene. J Clin Endocrinol Metab. 1995; 80:1635-40.
10. Bassett MH, White PC, Rainey WE. The regulation of aldosterone synthase expression. Mol Cell Endocrinol. 2004; 217:67-74. (Pubitemid 38596630)
11. Speiser PW, Agdere L, Ueshiba H, White PC, New MI. Aldosterone synthesis in salt-wasting congenital adrenal hyperplasia with complete absence of adrenal 21-hydroxylase. N Engl J Med. 1991; 324:145-9.
12. White PC. Aldosterone synthase deficiency and related disorders. Mol Cell Endocrinol. 2004; 217:81-7. (Pubitemid 38596632)
13. Gomes LG, Huang N, Agrawal V, Mendon□a BB, Bachega TA, Miller WL. Extraadrenal 21-Hydroxylation by CYP2C19 and CYP3A4: Effect on 21-Hydroxylase Deficiency J. Clin. Endocrinol. Metab. 2009; 94:89-95.
14. Mahdieh N, Bagherian H, Shirkavand A, Sharafi M, Zeinali S. High level of intrafamilial phenotypic variability of non-syndromic hearing loss in a Lur family due to delE120 mutation in GJB2 gene. Inter J Pediatric Otorhinolaryngol. 2010; 74:1089-91.
15. Mahdieh N, Rabbani B. Statistical study of 35delG mutation of GJB2 gene: a meta-analysis of carrier frequency. Int J Audiol. 2009; 48:363-70.