Three novel mutations in Japanese patients with 21-hydroxylase deficiency

Hormone Research

Volumn 61, Issue 3, 2004, Pages 126-132

  Usui, Takeshi ^a,g   Nishisho, Kahoru ^b   Kaji, Masayuki ^c   Ikuno, Noriko ^d   Yorifuji, Tohru ^e   Yasuda, Toshiyuki ^f   Kuzuya, Hideshi ^a   Shimatsu, Akira ^a  

^a NATIONAL HOSPITAL ORGANIZATION KYOTO MEDICAL CENTER   (Japan)

^b National Hospital Organization   (Japan)

^c SHIZUOKA CHILDREN'S HOSPITAL   (Japan)

^d HYOGO PREFECTURAL AMAGASAKI GENERAL MEDICAL CENTER   (Japan)

^e KYOTO UNIVERSITY   (Japan)

^f NATIONAL HOSPITAL ORGANIZATION CHIBA MEDICAL CENTER   (Japan)

^g NONE   (Japan)

Author keywords

21 Hydroxylase deficiency; Congenital adrenal hyperplasia; Japanese CAH patients; Mutations, 21 OHd

Indexed keywords

STEROID 21 MONOOXYGENASE;

ALLELE; ARTICLE; CLINICAL ARTICLE; CONGENITAL ADRENAL HYPERPLASIA; CONTROLLED STUDY; EXON; FEMALE; GENE DELETION; GENE FREQUENCY; GENE MUTATION; GENE SEQUENCE; HUMAN; MALE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PSEUDOGENE; SEQUENCE ANALYSIS; STEROID 21 MONOOXYGENASE DEFICIENCY;

ADRENAL HYPERPLASIA, CONGENITAL; ADRENOCORTICOTROPIC HORMONE; ALLELES; AMINO ACID SUBSTITUTION; BASE SEQUENCE; DNA PRIMERS; EXONS; FEMALE; HUMANS; JAPAN; MALE; MUTATION; MUTATION, MISSENSE; PEDIGREE; POLYMERASE CHAIN REACTION; RENIN; SEQUENCE DELETION; STEROID 21-HYDROXYLASE;

EID: 1542297676     PISSN: 03010163     EISSN: None     Source Type: Journal    
DOI: 10.1159/000075587     Document Type: Article

References (28)

1. White PC, New MI, Dupont B: Congenital adrenal hyperplasia. (1). N Engl J Med 1987;316:1519-1524.
2. White PC, Speiser PW: Congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Endocr Rev 2000;21:245-291.
3. Speiser PW, Dupont B, Rubinstein P, Piazza A, Kastelan A, New MI: High frequency of nonclassical steroid 21-hydroxylase deficiency. Am J Hum Genet 1985;37:650-667.
4. Morel Y, Miller WL: Clinical and molecular genetics of congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Adv Hum Genet 1991;20:1-68.
5. Speiser PW, Dupont J, Zhu D, et al: Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency. J Clin Invest 1992;90:584-595.
6. Wedell A, Chun X, Luthman H: A steroid 21-hydroxylase allele concomitantly carrying four disease-causing mutations is not uncommon in the Swedish population. Hum Genet 1994;93:204-206.
7. Helmberg A, Tusie-Luna MT, Tabarelli M, Kofler R, White PC: R339H and P453S: CYP21 mutations associated with nonclassic steroid 21-hydroxylase deficiency that are not apparent gene conversions. Mol Endocrinol 1992;6:1318-1322.
8. Helmberg A: Twin genes and endocrine disease: CYP21 and CYP11B genes. Acta Endocrinol (Copenh) 1993;129:97-108.
9. Wedell A, Ritzen EM, Haglund-Stengler B, Luthman H: Steroid 21-hydroxylase deficiency: Three additional mutated alleles and establishment of phenotype-genotype relationships of common mutations. Proc Natl Acad Sci USA 1992;89:7232-7236.
10. Stikkelbroeck NM, Hoefsloot LH, de Wijs IJ, Otten BJ, Hermus AR, Sistermans EA: CYP21 gene mutation analysis in 198 patients with 21-hydroxylase deficiency in The Netherlands: Six novel mutations and a specific cluster of four mutations. J Clin Endocrinol Metab 2003;88:3852-3859.
11. Baumgartner-Parzer SM, Schulze E, Waldhausl W, et al: Mutational spectrum of the steroid 21-hydroxylase gene in Austria: Identification of a novel missense mutation. J Clin Endocrinol Metab 2001;86:4771-4775.
12. Bachega TA, Billerbeck AE, Madureira G, et al: Low frequency of CYP2B deletions in Brazilian patients with congenital adrenal hyperplasia due to 21-hydroxylas deficiency. Hum Hered 1999;49:9-14.
13. Billerbeck AE, Mendonca BB, Pinto EM, Madureira G, Arnhold IJ, Bachega TA: Three novel mutations in CYP21 gene in Brazilian patients with the classical form of 21-hydroxylase deficiency due to a founder effect. J Clin Endocrinol Metab 2002;87:4314-4317.
14. Koyama S, Toyoura T, Saisho S, Shimozawa K, Yata J: Genetic analysis of Japanese patients with 21-hydroxylase deficiency: Identification of a patient with a new mutation of a homozygous deletion of adenine at codon 246 and patients without demonstrable mutations within the structural gene for CYP21. J Clin Endocrinol Metab 2002;87:2668-2673.
15. Lajic S, Clauin S, Robins T, et al: Novel mutations in CYP21 detected in individuals with hyperandrogenism. J Clin Endocrinol Metab 2002;87:2824-2829.
16. Deneux C, Tardy V, Dib A, et al: Phenotype-genotype correlation in 56 women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency. J Clin Endocrinol Metab 2001;86:207-213.
17. Killeen AA, Jiddou RR, Sane KS: Characterization of frequent polymorphisms in intron 2 of CYP21: Application to analysis of segregation of CYP21 alleles. Clin Chem 1998;44:2410-2415.
18. Loke KY, Lee YS, Lee WW, Poh LK: Molecular analysis of CYP-21 mutations for congenital adrenal hyperplasia in Singapore. Horm Res 2001;55:179-184.
19. Levo A, Partanen J: Novel mutations in the human CYP21 gene. Prenat Diagn 2001;21:885-889.
20. Dolzan V, Stopar-Obreza M, Zerjav-Tansek M, Breskvar K, Krzisnik C, Battelino T: Mutational spectrum of congenital adrenal hyperplasia in Slovenian patients: A novel Ala15Thr mutation and Pro30Leu within a larger gene conversion associated with a severe form of the disease. Eur J Endocrinol 2003;149:137-144.
21. Carlson AD, Obeid JS, Kanellopoulou N, Wilson RC, New MI: Congenital adrenal hyperplasia: Update on prenatal diagnosis and treatment. J Steroid Biochem Mol Biol 1999;69:19-29.
22. Ferenczi A, Garami M, Kiss E, et al: Screening for mutations of 21-hydroxylase gene in Hungarian patients with congenital adrenal hyperplasia. J Clin Endocrinol Metab 1999;84:2369-2372.
23. Amor M, Parker KL, Globerman H, New MI, White PC: Mutation in the CYP21B gene (Ile-172-Asn) causes steroid 21-hydroxylase deficiency. Proc Natl Acad Sci USA 1988;85:1600-1604.
24. Olney RC, Mougey EB, Wang J, Shulman DI, Sylvester JE: Using real-time, quantitative PCR for rapid genotyping of the steroid 21-hydroxylase gene in a north Florida population. J Clin Endocrinol Metab 2002;87:735-741.
25. Burghelle-Mayeur C, Geffrotin C, Vaiman M: Sequences of the swine 21-hydroxylase gene (CYP21) and a portion of the opposite-strand overlapping gene of unknown function previously described in human. Biochim Biophys Acta 1992;1171:153-161.
26. Chaplin DD, Galbraith LJ, Seidman JG, White PC, Parker KL: Nucleotide sequence analysis of murine 21-hydroxylase genes: Mutations affecting gene expression. Proc Natl Acad Sci USA 1986;83:9601-9605.
27. Chung BC, Matteson KJ, Miller WL: Structure of a bovine gene for P-450c21 (steroid 21-hydroxylase) defines a novel cytochrome P-450 gene family. Proc Natl Acad Sci USA 1986;83:4243-4247.
28. Yoshioka H, Morohashi K, Sogawa K, et al: Structural analysis of cloned cDNA for mRNA of microsomal cytochrome P-450(C21) which catalyzes steroid 21-hydroxylation in bovine adrenal cortex. J Biol Chem 1986;261:4106-4109.