Phenotypic heterogeneity associated with the splicing mutation in congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Journal of Clinical Endocrinology and Metabolism

Volumn 81, Issue 11, 1996, Pages 4081-4088

  Witchel, Selma F ^a   Bhamidipati, Durga K ^a   Hoffman, Eric P ^a   Cohen, Justus B ^a  

^a CHILDREN S HOSPITAL OF PITTSBURGH   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

STEROID 21 MONOOXYGENASE;

ARTICLE; CONGENITAL ADRENAL HYPERPLASIA; DNA SEQUENCE; EXON; FEMALE; GENETIC HETEROGENEITY; GENETIC TRANSFECTION; HUMAN; INTRON; MAJOR CLINICAL STUDY; MALE; NEWBORN; NUCLEIC ACID BASE SUBSTITUTION; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; RNA SPLICING; SEQUENCE ANALYSIS; SINGLE STRAND CONFORMATION POLYMORPHISM; STEROID 21 MONOOXYGENASE DEFICIENCY;

ADRENAL HYPERPLASIA, CONGENITAL; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; DNA PRIMERS; FEMALE; GENOTYPE; HUMANS; INFANT; INFANT, NEWBORN; MALE; MUTATION; NUCLEIC ACID HYBRIDIZATION; PEDIGREE; PHENOTYPE; POLYMERASE CHAIN REACTION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; RNA SPLICING; STEROID 21-HYDROXYLASE; TRANSFECTION;

EID: 0029795093     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.81.11.4081     Document Type: Article

References (49)

1. Dupont B, Oberfield SE, Smithwick EM, Lee TD, Levine LS. 1977 Close genetic linkage between HLA and congenital adrenal hyperplasia (21-hydroxylase deficiency). Lancet. 2:1309-1311.
2. White PC, New MI, Dupont B. 1986 Structure of human steroid 21-hydroxylase genes. Proc Natl Acad Sci USA. 83:5111-5115.
3. Higashi Y, Yoshioka M, Yamane M, Gotoh O, Fujii-Kuriyama Y. 1986 Complete nucleotide sequence of two steroid 21-hydroxylase genes tandemly arranged in human chromosome: a pseudogene and a functional gene. Proc Natl Acad Sci USA. 83:2841-2845.
4. Rodrigues NR, Dunham I, Yu CY, Carroll MC, Porter RR, Campbell RD. 1987 Molecular characterization of the HLA-linked steroid 21-hydroxylase B gene from an individual with congenital adrenal hyperplasia. EMBO J. 6:1653-1661.
5. Amor M, Parker KL, Globerman H, New MI, White PC. 1988 Mutation in the CYP21B gene (Ile-171-Asn) causes steroid 21-hydroxylase deficiency. Proc Natl Acad Sci USA. 85:1600-1604.
6. Globerman H, Amor M, Parker KL, New MI, White PC. 1988 Nonsense mutation causing 21-hydroxylase deficiency. J Clin Invest. 82:139-144.
7. Morel Y, André J, Uring-Lambert B, et al. 1989 Rearrangements and point mutations of P450c21 genes are distinguished by five restriction endonuclease haplotypes identified by a new probing strategy in 57 families with congenital adrenal hyperplasia. J Clin Invest. 83:527-536.
8. 356→Trp causes steroid 21-hydroxylase deficiency. J Biol Chem. 256:3549-3552.
9. Mornet E, Crété P, Kuttenn F, et al. 1991 Distribution of deletions and seven point mutations on CYP21B genes in three clinical forms of steroid 21-hydroxylase deficiency. Am J Hum Genet. 48:79-88.
10. Owerbach D, Sherman L, Ballard AL, Azziz R. 1992 Pro-453 to Ser mutation in CYP21 is associated with nonclassic steroid 21-hydroxylase deficiency. Mol Endocrinol. 6:1211-1215.
11. Helmburg A, Tusie-Luna M, Tabarelli M, Kofler R, White PC. 1992 R339H and P453S: CYP21 mutations associated with nonclassic steroid 21-hydroxylase deficiency that are not apparent gene conversions. Mol Endocrinol. 6:1318-1322.
12. Matteson KJ, Phillips III JA, Miller WL, et al. 1987 P450XXI (steroid 21-hydroxylase) gene deletions are not found in family studies of congenital adrenal hyperplasia. Proc Natl Acad Sci USA. 84:5858-5862.
13. Harada F, Kimura A, Iwanaga T, Shimozawa K, Yata J, Sasazuki T. 1987 Gene conversion-like events cause steroid 21-hydroxylase deficiency in congenital adrenal hyperplasia. Proc Natl Acad Sci USA. 84:8091-8094.
14. Wedell A, Luthman H. 1993 Steroid 21-hydroxylase (P450c21): a new allele and spread of mutations through the pseudogene. Hum Genet. 91:236-240.
15. Higashi Y, Tanae A, Inoue H, Hiromasa T, Fujii-Kuriyama Y. 1988 Aberrant splicing and missense mutations cause steroid 21-hydroxylase deficiency [(P-450(C21)] deficiency in humans: possible gene conversion products. Proc Natl Acad Sci USA. 85:7486-7490.
16. Owerbach D, Ballard L, Draznin MB. 1992 Salt-wasting congenital adrenal hyperplasia: detection and characterization of mutations in the steroid 21-hydroxylase gene, CYP21, using polymerase chain reaction. J Clin Endocrinol Metab. 74:553-558.
17. Wassarman DA, Steitz JA. 1993 Interactions of small nuclear RNA's with precursor mRNA during in vitro splicing. Science. 257:1918-1925.
18. Lamond AI. 1993 The spliceosome. BioEssays. 15:595-603.
19. Green MR. 1991 Biochemical mechanisms of constitutive and regulated pre-mRNA splicing. Annu Rev Cell Biol. 7:559-599.
20. Moore MJ, Query CC, Sharp PA. 1993 Splicing of precursors to mRNA by the spliceosome. In: Gesteland RF, Atkins JF, eds. The RNA world. Plainview: Cold Spring Harbor Press; 303-357.
21. Cooper DN, Krawczak M. 1993 Human gone mutation. Oxford: Bios Scientific; 239-260.
22. Guo W, Mulligan GJ, Wormsley S, Helfman DM. 1991 Alternative splicing of β-tropomyosin pre-mRNA: cis-acting elements and cellular factors that block the use of a skeletal muscle exon in nonmuscle cells. Genes Dev. 5:2096-2107.
23. Mullen MP, Smith CWJ, Patton JG, Nadal-Ginard B. 1991 α-Tropomyosin mutually exclusive exon selection: competition between branchpoint/polypyrimidine tracts determines default exon choice. Genes Dev. 5:642-655.
24. Owerbach D, Crawford YM, Draznin MB. 1990 Direct analysis of CYP21B genes in 21-hydroxylase deficiency using polymerase chain reaction amplification. Mol Endocrinol. 4:125-131.
25. Speiser PW, Dupont J, Zhu D, et al. 1992 Disease expression and molecular genotype in congenital adrenal hyperplasia clue to 21-hydroxylase deficiency. J Clin Invest. 90:584-595.
26. Wedell A, Ritzen EM, Haglund-Stengler B, et al. 1992 Steroid 21-hydroxylase deficiency: three additional mutated alleles and establishment of phenotype-genotype relationships of common mutations. Proc Natl Acad Sci USA. 89:7232-7236.
27. Siegel SF, Lee PA, Rudert WA, Swinyard M, Trucco M. 1995 Phenotype/genotype correlations in 21-hydroxylase deficiency. Adolesc Pediatr Gynecol. 8:9-16.
28. Schulze E, Scharer G, Rogatzki A, et al. 1995 Divergence between genotype and phenotype in relatives of patients with the intron 2 mutation of steroid 21-hydroxylase. Endocr Res. 21:359-364.
29. Witchel SS, Lee PA, Trucco M. 1996 Who is a carrier? Detection of unsuspected mutations in 21-hydroxylase deficiency. Am J Med Genet. 61:2-9.
30. Siegel SF, Finegold DN, Lanes R, Lee PA. 1990 ACTH stimulation tests and plasma dehydroepiandrosterone sulfate levels in women with hirsutism. N Engl J Med. 323:849-854.
31. Siegel SF, Finegold DN, Murray PJ, Lee PA. 1991 Assessment of clinical hyperandrogenism in adolescent girls. Adol Pediatr Gynecol. 5:13-20.
32. Tong JY, Hammad A, Rudert WA, Trucco M, Hsia S. 1993 Heteroduplexes for HLA DQB1 identity of family members and kidney donor-recipient pairs. Transplantation. 55:741-745.
33. Hsia S, Tong JY, Parris GL, et al. 1993 Molecular compatibility and renal graft survival-the HLA DRB1 genotyping. Transplantation. 55:395-399.
34. Siegel SF, Hoffman EP, Trucco M. 1994 Molecular diagnosis of 21-hydroxylase deficiency: detection of four mutations on a single gel. Biochem Med Metab Biol. 51:66-73.
35. Cohen JB, Broz SD, Levinson AD. 1993 U1 small nuclear RNAs with altered specificity can be stably expressed in mammalian cells and promote permanent changes in pre-mRNA splicing. Mol Cell Biol. 13:2666-2676.
36. Graham FL, Smiley J, Russell WC, Nairu R. 1977 Characteristics of a human cell line transformed by DNA from human adenovirus type 5. J Gen Virol. 36:59-77.
37. Cohen JB, Levinson AD. 1988 A point mutation in the last intron responsible for increased expression and transforming activity of the c-Ha-ras oncogene. Nature. 334:119-124.
38. Strijker R, Fritz DT, Levinson AD. 1989 Adenovirus VAI-RNA regulates gene expression by controlling stability of ribosome-bound RNAs. EMBO J. 8:2669-2675.
39. Gluzman Y. 1981 SV40-transformed simian cells support the replication of early SV40 mutants. Cell. 23:175-182.
40. Donohoue P, Van Dop C, McLean RH, White PC, Jospe N, Migeon C. 1986 Gene conversion in salt-losing congenital adrenal hyperplasia with absent complement C4B protein. J Clin Endocrinol Metab. 62:995-1002.
41. Urabe K, Kimura A, Harada F, Iwanaga T, Sasazuki T. 1990 Gene conversion in steroid 21-hydroxylase genes. Am J Hum Genet. 46:1178-1186.
42. Helmberg A. 1993 Twin genes and endocrine disease: CYP21 and CYP11B genes. Acta Endocrinol (Copenh). 129:97-108.
43. Wilson RC, Mercado AB, Cheng KC, New MI. Steroid. 1995 21-Hydroxylase deficiency: genotype may not predict phenotype. J Clin Endocrinol Metab 80:2322-2329.
44. Kutenn F, Couillin P, Girard F, et al. 1985 Late-onset adrenal hyperplasia in hirsutism. N Engl J Med 313:224-231.
45. Spector DL. 1993 Nuclear organization of pre-mRNA processing. Curr Opin Cell Biol. 5:442-448.
46. Smith CWJ, Porro EB, Patton JG, Nadal-Ginard B. 1989 Scanning from an independently specified branch point defines the 3′ splice site of mammalian introns. Nature. 342:243-247.
47. Staknis D, Reed R. 1994 SR proteins promote the first specific recognition of pre-mRNA and are present together with the U1 small nuclear ribonucleoprotein particle in a general splicing enhancer complex. Mol Cell Biol. 14:7670-7682.
48. Watakabe A, Tanaka K, Shimura Y. 1993 The role of exon sequences in splice site selection. Genes Dev. 7:407-418.
49. Lin CH, Patton JG. 1995 Regulation of alternative 3′ splice site selection by constitutive splicing factors. RNA. 1:234-245.