Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
15
pubmed:dateCreated
1992-9-4
pubmed:abstractText
Lesions in the gene encoding steroid 21-hydroxylase [steroid hydrogen-donor: oxygen oxidoreductase (21-hydroxylating), EC 1.14.99.10] result in defective adrenal steroid synthesis; the severe forms are known as congenital adrenal hyperplasia. To facilitate complete characterization of mutations in this region of tandemly repeated genes, we have developed selective PCR amplification and direct sequencing of full-length nonpseudogene steroid 21-hydroxylase genes. This technique identifies known mutations, characterizes or excludes unknown mutations, and determines the gene-copy number. Three additional defective alleles were found. A Gly-292----Ser mutation and a frameshift mutation at Arg-484 (GG----C) were identified in patients with severe steroid 21-hydroxylase deficiency. An allele with three additional sequence variations--C----T at 4 bases upstream of translation initiation, Pro-106----Leu, and Pro-454----Ser--were identified in two siblings with late-onset deficiency. Pro-454 is conserved in four species, indicating its importance for normal enzyme function. Functional consequences of individual alleles have been determined in vivo by studying individuals with only one steroid 21-hydroxylase gene. Detailed analyses of clinical data revealed that genotyping could predict the clinical course of the disease. The locations of disease-causing mutations on different haplotypes of the steroid 21-hydroxylase gene region are described.
pubmed:commentsCorrections
http://linkedlifedata.com/resource/pubmed/commentcorrection/1496017-1864962, http://linkedlifedata.com/resource/pubmed/commentcorrection/1496017-1869518, http://linkedlifedata.com/resource/pubmed/commentcorrection/1496017-1924294, http://linkedlifedata.com/resource/pubmed/commentcorrection/1496017-1978247, http://linkedlifedata.com/resource/pubmed/commentcorrection/1496017-1985465, http://linkedlifedata.com/resource/pubmed/commentcorrection/1496017-2072928, http://linkedlifedata.com/resource/pubmed/commentcorrection/1496017-2152933, http://linkedlifedata.com/resource/pubmed/commentcorrection/1496017-2249999, http://linkedlifedata.com/resource/pubmed/commentcorrection/1496017-2303461, http://linkedlifedata.com/resource/pubmed/commentcorrection/1496017-2325662, http://linkedlifedata.com/resource/pubmed/commentcorrection/1496017-2335516, http://linkedlifedata.com/resource/pubmed/commentcorrection/1496017-2645293, http://linkedlifedata.com/resource/pubmed/commentcorrection/1496017-2668874, http://linkedlifedata.com/resource/pubmed/commentcorrection/1496017-2694937, http://linkedlifedata.com/resource/pubmed/commentcorrection/1496017-2694943, http://linkedlifedata.com/resource/pubmed/commentcorrection/1496017-2788573, http://linkedlifedata.com/resource/pubmed/commentcorrection/1496017-2827462, http://linkedlifedata.com/resource/pubmed/commentcorrection/1496017-2845408, http://linkedlifedata.com/resource/pubmed/commentcorrection/1496017-2878869, http://linkedlifedata.com/resource/pubmed/commentcorrection/1496017-2983330, http://linkedlifedata.com/resource/pubmed/commentcorrection/1496017-2989686, http://linkedlifedata.com/resource/pubmed/commentcorrection/1496017-3038528, http://linkedlifedata.com/resource/pubmed/commentcorrection/1496017-3257825, http://linkedlifedata.com/resource/pubmed/commentcorrection/1496017-3260007, http://linkedlifedata.com/resource/pubmed/commentcorrection/1496017-3267225, http://linkedlifedata.com/resource/pubmed/commentcorrection/1496017-3295543, http://linkedlifedata.com/resource/pubmed/commentcorrection/1496017-3486422, http://linkedlifedata.com/resource/pubmed/commentcorrection/1496017-3487086, http://linkedlifedata.com/resource/pubmed/commentcorrection/1496017-3487786, http://linkedlifedata.com/resource/pubmed/commentcorrection/1496017-3490178, http://linkedlifedata.com/resource/pubmed/commentcorrection/1496017-3491986, http://linkedlifedata.com/resource/pubmed/commentcorrection/1496017-3495238, http://linkedlifedata.com/resource/pubmed/commentcorrection/1496017-3871526, http://linkedlifedata.com/resource/pubmed/commentcorrection/1496017-6321532, http://linkedlifedata.com/resource/pubmed/commentcorrection/1496017-6609358, http://linkedlifedata.com/resource/pubmed/commentcorrection/1496017-6977282, http://linkedlifedata.com/resource/pubmed/commentcorrection/1496017-9556656
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Aug
pubmed:issn
0027-8424
pubmed:author
pubmed:issnType
Print
pubmed:day
1
pubmed:volume
89
pubmed:geneSymbol
CYP21
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
7232-6
pubmed:dateRevised
2010-9-7
pubmed:meshHeading
pubmed-meshheading:1496017-Adrenal Hyperplasia, Congenital, pubmed-meshheading:1496017-Alleles, pubmed-meshheading:1496017-Amino Acid Sequence, pubmed-meshheading:1496017-Base Sequence, pubmed-meshheading:1496017-DNA, pubmed-meshheading:1496017-Female, pubmed-meshheading:1496017-Frameshift Mutation, pubmed-meshheading:1496017-Genotype, pubmed-meshheading:1496017-Haplotypes, pubmed-meshheading:1496017-Humans, pubmed-meshheading:1496017-Leukocytes, pubmed-meshheading:1496017-Male, pubmed-meshheading:1496017-Molecular Sequence Data, pubmed-meshheading:1496017-Mutation, pubmed-meshheading:1496017-Oligodeoxyribonucleotides, pubmed-meshheading:1496017-Phenotype, pubmed-meshheading:1496017-Polymerase Chain Reaction, pubmed-meshheading:1496017-Reference Values, pubmed-meshheading:1496017-Repetitive Sequences, Nucleic Acid, pubmed-meshheading:1496017-Steroid 21-Hydroxylase
pubmed:year
1992
pubmed:articleTitle
Steroid 21-hydroxylase deficiency: three additional mutated alleles and establishment of phenotype-genotype relationships of common mutations.
pubmed:affiliation
Department of Clinical Genetics, Rolf Luft Center for Diabetes Research, Stockholm, Sweden.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't