H28+C insertion in the CYP21 gene: A novel frameshift mutation in a Brazilian patient with the classical form of 21-hydroxylase deficiency

Journal of Clinical Endocrinology and Metabolism

Volumn 86, Issue 12, 2001, Pages 5877-5880

  Lau, I F ^a   Soardi, F C ^a   Lemos Marini, S H V ^a   Guerra G , Jr ^a   Baptista, M T M ^a   De Mello, M P ^a  

^a UNIVERSITY OF CAMPINAS   (Brazil)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; CYTOCHROME P450; OLIGONUCLEOTIDE; STEROID 21 MONOOXYGENASE; UNCLASSIFIED DRUG;

ALLELE; ARTICLE; CASE REPORT; CHIMERA; CODON; CONGENITAL ADRENAL HYPERPLASIA; CONSANGUINEOUS MARRIAGE; ENZYME ACTIVITY; EXON; FEMALE; FRAMESHIFT MUTATION; GENE CONVERSION; GENE INSERTION; GENE MUTATION; GENE SEQUENCE; GENOTYPE; HOMOZYGOSITY; HUMAN; NEWBORN; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PSEUDOGENE; STEROID 21 MONOOXYGENASE DEFICIENCY;

EID: 0035216043     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jcem.86.12.8113     Document Type: Article

References (24)

1. Congenital adrenal hyperplasia due to 21-hydroxylase deficiency
2. The human gene mutation database
3. Functional analysis of four CYP21 mutations from Spanish patients with congenital adrenal hyperplasia
4. A novel frameshift mutation (141delT) in exon 1 of the 21-hydroxylase (CYP21) in a patient with the salt wasting form of congenital adrenal hyperplasia
5. Steroid 21-hydroxylase deficiency: Mutational spectrum in Denmark, three novel mutations, and in vitro expression analysis
6. Identification of CYP21 mutations, one novel, by single strand conformational polymorphism (SSCP) analysis
7. E380D: A novel point mutation of CYP21 in an HLA-homozygous patient with salt-losing congenital adrenal hyperplasia due to 21-hydroxylase deficiency
8. An intron 1 splice mutation and a nonsense mutation (W23X) in CYP21 causing severe congenital adrenal hyperplasia
9. Identification of four novel mutations in the CYP21 gene in congenital adrenal hyperplasia in the Chinese
10. Molecular analysis of Japanese patients with steroid 21-hydroxylase deficiency
11. Steroid 21-hydroxylase deficiency: Two additional mutations in salt-wasting disease and rapid screening of disease-causing mutations
12. Steroid 21-hydroxylase deficiency: Three additional mutated alleles and establishment of phenotype-genotype relationships of common mutations
13. Steroid 21-hydroxylase deficiency: Two additional mutations in salt-wasting disease and rapid screening of disease-causing mutations
14. A cluster of missense mutations at Arg356 of human steroid 21-hydroxylase may impair redox partner interaction
15. Steroid 21-hydroxylase (P450c21): A new allele and spread of mutations through the pseudogene
16. Molecular analysis of CYP21 and C4 genes in Brazilian families with the classical form of steroid 21-hydroxylase deficiency
17. Mutation distribution and CYP21/C4 locus variability in Brazilian families with the classical form of the 21-hydroxylase deficiency
18. Rapid deoxyribonucleic acid analysis by allele-specific polymerase chain reaction for detection of mutations in the steroid 21-hydroxylase gene
19. Complete nucleotide sequence of 2 steroid 21-hydroxylase genes tandemly arranged in human chromosome: A pseudogene and a genuine gene
20. Identification of non-amplifying CYP21 genes when using PCR-based diagnosis of 21-hydroxylase deficiency in congenital adrenal hyperplasia (CAH) affected pedigrees
21. Molecular modelling of steroidogenic cytochromes P450 from families CYP11, CYP17, CYP19 and CYP21 based on the CYP102 crystal structure
22. Naturally occurring mutants of human steroid 21-hydroxylase (P450c21) pinpoint residues important for enzyme activity and stability
23. A novel frameshift mutation in the first exon of the 21-OH gene found in homozygosity in an apparently nonconsanguineous family
24. A novel missense mutation, GLY424SER, in Brazilian patients with 21-hydroxylase deficiency