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

Journal of Clinical Endocrinology and Metabolism

Volumn 87, Issue 6, 2002, Pages 2668-2673

  Koyama, Satomi ^a   Toyoura, Takio ^a   Saisho, Sumitaka ^a   Shimozawa, Kazuhiko ^a   Yata, Junichi ^a  

^a TOKYO MEDICAL AND DENTAL UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE; STEROID 21 MONOOXYGENASE;

ALLELE; ARTICLE; CAUCASIAN; CHROMOSOME ANALYSIS; CODON; CONGENITAL ADRENAL HYPERPLASIA; CYP21 GENE; FEMALE; GENE DELETION; GENE IDENTIFICATION; GENETIC ANALYSIS; GENETIC RECOMBINATION; GENOTYPE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MALE; METABOLIC DISORDER; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SALT LOSING NEPHRITIS; STEROID 21 MONOOXYGENASE DEFICIENCY; STRUCTURAL GENE; VIRILIZATION;

EID: 0036075210     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jcem.87.6.8522     Document Type: Article

References (37)

1. Basic and clinical aspects of congenital adrenal hyperplasia
2. Congenital adrenal hyperplasia due to 21-hydroxylase deficiency: Newborn screening and its relationship to the diagnosis and treatment of the disorder
3. Genetics, diagnosis and management of 21-hydroxylase deficiency
4. Genetic basis of endocrine disease 2: Congenital adrenal hyperplasia due to 21-hydroxylase deficiency
5. Mapping of steroid 21-hydroxylase genes adjacent to complement component C4 genes in HLA, the major histocompatibility complex in man
6. Two genes encoding steroid 21-hydroxylase are located near the genes encoding the fourth component of complement in man
7. Complete nucleotide sequence of two steroid 21-hydroxylase genes tandemly arranged in human chromosome: A pseudogene and a genuine gene
8. Structure of human steroid 21-hydroxylase genes
9. Gene conversion in salt-losing congenital adrenal hyperplasia with absent complement C4B protein
10. P450XXI (steroid 21-hydroxylase) gene deletions are not found in family studies of congenital adrenal hyperplasia
11. 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
12. A mutation (Pro-30 to Leu) in CYP21 represents a potential nonclassic steroid 21-hydroxylase deficiency allele
13. Effects of individual mutations in the P450(C21) pseudogene on the P-450(C21) activity and their distribution in the patient genomes of congenital steroid 21-hydroxylase deficiency
14. Distribution of deletions and seven point mutations on CYP21B genes in three clinical forms of steroid 21-hydroxylase deficiency
15. Mutation in the CYP21B gene (Ile-172→Asn) causes steroid 21-hydroxylase deficiency
16. A missense mutation at Ile-172-Asn or Arg-356-Trp causes steroid 21-hydroxylase deficiency
17. Aberrant splicing and missense mutations cause steroid 21-hydroxylase [P450(C21)] deficiency in humans: Possible gene conversion products
18. Determination of functional effects of mutations in the steroid 21-hydroxylase gene (CYP21) using recombinant vaccinia virus
19. 256 result in complete, partial, or no loss of enzymatic activity, respectively
20. Nonsense mutation causing steroid 21-hydroxylase deficiency
21. Congenital adrenal hyperplasia
22. Steroid 21-hydroxylase deficiency (congenital adrenal hyperplasia)
23. Clinical and molecular genetics of congenital adrenal hyperplasia due to 21-hydroxylase deficiency
24. Nonclassic adrenal hyperplasia: Current concepts
25. Mutational spectrum of the steroid 21-hydroxylase gene in Sweden: Implications for genetic diagnosis and association with disease manifestation
26. Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency
27. Molecular diagnosis for steroid 21-hydroxylase deficiency by polymerase chain reaction with dried blood spots
28. Analysis of steroid 21-hydroxylase gene mutations in the Spanish population
29. Population-wide evaluation of disease manifestation in relation to molecular genotype in steroid 21-hydroxylase (CYP21) deficiency: Good correlation in a well defined population
30. Molecular genotyping in Brazilian patients with the classical and nonclassical forms of 21-hydroxylase deficiency
31. Screening for mutations of 21-hydroxylase gene in Hungarian patients with congenital adrenal hyperplasia
32. Molecular analysis of patient and carrier genes with congenital steroid 21-hydroxylase deficiency by polymerase chain reaction and single strand conformational polymorphism
33. Steroid 21-hydroxylase deficiency: Genotype may not predict phenotype
34. Molecular analysis of Japanese patients with steroid 21-hydroxylase deficiency
35. Molecular basis of nonclassical steroid 21-hydroxylase deficiency detected by neonatal mass screening in Japan
36. Mutations of the CYP21 gene in nonclassical steroid 21-hydroxylase deficiency in Japan
37. Congenital adrenal hyperplasia (21-hydroxylase deficiency) without demonstrable genetic mutations