Linked Life Data

1665206

Source:http://linkedlifedata.com/resource/pubmed/id/1665206

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
12
pubmed:dateCreated
1992-3-31
pubmed:databankReference
pubmed:abstractText
The molecular basis of 17 alpha-hydroxylase/17,20-lyase deficiency syndrome in a 14-yr-old 46,XY Italian patient was investigated by amplification, subcloning, and sequencing of specific exonic sequences from genomic DNA samples. A homozygous mutation, consisting of a 518-basepair (bp) deletion combined with a 469-bp insertion, was identified in the CYP17 gene of the patient. The deletion spans much of exon II, the whole intron 2, and a portion of exon III. A part (156 bp) of the inserted sequence shows 95.5% identity to the nuclear antigen-binding site on Marek disease virus DNA and sequences found in rearranged mitochondrial DNA of rat hepatoma cells. A similar degree of sequence identity (99%) was also found between the above sequences and part of the lac operon of E. coli. The inserted sequence is lacking the BamHI site in intron 2 of CYP17 and contains an in-frame stop codon (TAA). Thus, the mutated gene encodes a truncated nonfunctional steroid hydroxylase, giving rise to symptoms associated with complete combined 17 alpha-hydroxylase/17,20-lyase deficiency. The family history revealed that the patient is the child of a consanguineous marriage and has two genotypically and phenotypically female sisters also suffering from symptoms of the disease. Investigation of genomic DNA from these sisters revealed that in each case both CYP17 alleles contained the same mutation. On the other hand, the parents were found to be heterozygous for this mutation. The insertion could not be found in DNA from normal individuals or in the CYP17 gene of other Italian patients with the 17 alpha-hydroxylase deficiency syndrome.(ABSTRACT TRUNCATED AT 250 WORDS)
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Dec
pubmed:issn
0888-8809
pubmed:author
pubmed:issnType
Print
pubmed:volume
5
pubmed:geneSymbol
CYP17
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
2037-45
pubmed:dateRevised
2007-11-14
pubmed:meshHeading
pubmed-meshheading:1665206-Adolescent, pubmed-meshheading:1665206-Adrenal Hyperplasia, Congenital, pubmed-meshheading:1665206-Aldehyde-Lyases, pubmed-meshheading:1665206-Base Sequence, pubmed-meshheading:1665206-Blotting, Southern, pubmed-meshheading:1665206-Chromosome Deletion, pubmed-meshheading:1665206-Cytochrome P-450 Enzyme System, pubmed-meshheading:1665206-DNA, pubmed-meshheading:1665206-DNA Transposable Elements, pubmed-meshheading:1665206-Exons, pubmed-meshheading:1665206-Humans, pubmed-meshheading:1665206-Introns, pubmed-meshheading:1665206-Italy, pubmed-meshheading:1665206-Male, pubmed-meshheading:1665206-Metabolism, Inborn Errors, pubmed-meshheading:1665206-Molecular Sequence Data, pubmed-meshheading:1665206-Mutation, pubmed-meshheading:1665206-Polymerase Chain Reaction, pubmed-meshheading:1665206-Steroid 17-alpha-Hydroxylase, pubmed-meshheading:1665206-Syndrome
pubmed:year
1991
pubmed:articleTitle
Deletion within the CYP17 gene together with insertion of foreign DNA is the cause of combined complete 17 alpha-hydroxylase/17,20-lyase deficiency in an Italian patient.
pubmed:affiliation
Cecil H. and Ida Green Center for Reproductive Biology Sciences, Department of Biochemistry, University of Texas Southwestern Medical Center, Dallas 75235-9051.
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S., Case Reports, Research Support, Non-U.S. Gov't