Skip to main content
Have a personal or library account? Click to login
Molecular Analysis of a Family With Congenital Adrenal Hyperplasia - Genotype/Phenotype Discrepancy Cover

Molecular Analysis of a Family With Congenital Adrenal Hyperplasia - Genotype/Phenotype Discrepancy

Balkan Journal of Medical Genetics
Volume 10 (2007): Issue 2 (December 2007)
By:  and    
Open Access
|May 2008
References

References

  1. Arlt W, Walker EA, Draper N, Ivison HE, Ride JP, Hammer F, Chalder SM, Borucka-Mankiewicz M, Hauffa BP, Malunowicz EM, Stewart PM, Shackleton CHL. Congenital adrenal hyperplasia caused by mutant P450 oxidoreductase and human androgen synthesis: analytical study.2004; 363(9427): 2128-2135.
    Open DOISearch in Google Scholar
  2. Morel Y, Miller WL. Clinical and molecular genetics of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.1991; 20: 1-68.
    Open DOISearch in Google Scholar
  3. New MI. 21-hydroxylase deficiency congenital adrenal hyperplasia.1994; 48(1): 15-22.
    Open DOISearch in Google Scholar
  4. Higashi Y, Hiromasa T, Tanae A, Miki T, Nakura J, Kondo T, Ohura T, Ogawa E, Nakayama K, Fujii-Kuriyama Y. Effects of individual mutations in the P-450 (C21) pseudogene on the P450 (C21) activity and their distribution in the patient genomes of congenital steroid 21-hydroxylase deficiency.1991; 109(4): 638-644.
    Open DOISearch in Google Scholar
  5. Mornet E, Couillin P, Kuttenn F, Raux MC, White PC, Cohen D, Boué A, Dausset J. Distribution of deletions and seven point mutations on CYP21B genes in three clinical forms of steroid 21-hydroxylase deficiency.1991; 48(1): 79-88.
    Search in Google Scholar
  6. Tusie-Luna MT, Speiser PW, Dumic M, New MI, White PC. A mutation (Pro-30 to Leu) in CYP21 represents a potential nonclassic steroid 21-hydroxylase deficiency allele.1991; 5(5): 685-692.
    Open DOISearch in Google Scholar
  7. Chiou Sh-H, Hu M-Ch, Chung B-Ch. A missense mutation at Ile→Asn or Arg→Trp causes steroid 21-hydroxylase deficiency.1990; 265(6): 3549-3552.
    Open DOISearch in Google Scholar
  8. 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.1986; 83(9): 2841-2845.
    Open DOISearch in Google Scholar
  9. White PC, New MI, Dupont B. Sructure of human steroid 21-hydroxylase genes.1986; 83(14): 5111-5115.
    Open DOISearch in Google Scholar
  10. Rodrigues NR, Dunham I, Yu CY, Carroll MC, Porter RR, Compbell RD. Molecular characterization of the HLA-linked steroid 21-hydroxylase B gene from an individual with congenital adrenal hyperplasia.1987; 6(6): 1653-1661.
    Open DOISearch in Google Scholar
  11. Balsamo A, Cacciari E, Baldazzi L, Tartaglia L, Cassio A, Mantovani V, Piazzi S, Cicognani A, Pirazzoli P, Mainetti B, Zappulla F. CYP21 analysis and phenotype/genotype relationship in the screened population of the Italian Emilia-Romana region.2000; 53(1): 117-125.
    Open DOISearch in Google Scholar
  12. Charmandari E, Eisenhofer G, Mehlinger SL, Carlson A, Wesley R, Keil MF, Chrousos GP, New MI, Merke DP. Adrenomedullary function may predict phenotype and genotype in classic 21-hydroxylase deficiency.2002; 87(7): 3031-3037.
    Open DOISearch in Google Scholar
  13. Tanner JM. Growth at Adolescence, with a General Consideration of the Effects of Hereditary and Environmental Factors Upon Growth and Maturation From Birth to Maturity, 2nd ed. Oxford: Blackwell Scientific Publications, 1962.
    Search in Google Scholar
  14. Prader A, Illig R, Zachmann M. Prenatal LH-deficiency as possible cause of male pseudohermaphroditism, hypospadias, hypogenitalism and cryptorchidism. Proceedings of the European Society of Paediatric Endocrinology, Rotterdam, The Netherlands.1976; 10: 883.
    Open DOISearch in Google Scholar
  15. Tanner JM, Whitehouse RH, Takaishi M. Standards from birth to maturity for height, weight, height velocity and weight velocity. British children. Part II.1966; 41(220): 613-635.
    Open DOISearch in Google Scholar
  16. Haliassos A, Chomel JC, Tesson L, Baudis M, Kruh J, Kaplan JC, Kitzis A. Modification of enzymatically amplified DNA for the detection of point mutations.1989; 17(9): 3606.
    Open DOISearch in Google Scholar
  17. Lee HH, Chao HT, Ng HT, Choo KB. Direct molecular diagnosis of CYP21 mutations in congenital adrenal hyperplasia.1996; 33(5): 371-375.
    Open DOISearch in Google Scholar
  18. 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.2000; 85(3): 1059-1065.
    Open DOISearch in Google Scholar
  19. White OC, Speiser PW. Congenital adrenal hyperplasia due to 21-hydroxylase deficiency.2000; 21(3): 245-291
    Search in Google Scholar
DOI: https://doi.org/10.2478/v10034-008-0003-3 | Journal eISSN: 2199-5761 (formerly 1311-0160) | Journal ISSN: 1311-0160
Journal RSS Feed
Language: English
Page range: 23 - 28
Published on: May 30, 2008
Published by: Macedonian Academy of Sciences and Arts
In partnership with: Paradigm Publishing Services
Keywords:
Congenital adrenal hyperplasia (CAH),
CYP Mutations,
Phenotype
Related subjects:
Medicine,
Basic medical science,
Basic medical science, other

© 2008 V Anastasovska, M Kocova, published by Macedonian Academy of Sciences and Arts
This work is licensed under the Creative Commons License.

Volume 10 (2007): Issue 2 (December 2007)
Previous article
Next article