Linked Life Data

20080843

Source:http://linkedlifedata.com/resource/pubmed/id/20080843

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
2010-3-5
pubmed:abstractText
Context: Cytochrome P450c17 (P450c17) is a bifunctional enzyme necessary for the production of glucocorticoids (17-hydroxylase activity) and sex steroids (17,20-lyase activity). Isolated 17,20-lyase deficiency is a rare condition characterized by a deficient production of androgens resulting in 46,XY disorders of sex development (DSD) while the production of glucocorticoids is intact. Several missense mutations in the CYP17A1 gene are known to cause this condition. Cytochrome b(5) (CytB5) is an important factor in 17,20-lyase activity, probably by acting as an allosteric factor. Objective: The aim of this study was to investigate the role of CytB5 in a patient with defective 17,20-lyase activity. Setting: We conducted the study in a pediatric outpatient clinic of a University Hospital. Patients: We studied a 46,XY DSD patient with 17,20-lyase deficiency without missense mutation in the CYP17A1 gene and his parents. Main Outcome Measures: We sequenced the CYB5 gene and measured steroid hormone levels. Results: Analysis of the CYB5 gene in our patient revealed a homozygous W27X mutation, leading to the formation of a premature stop codon; his parents were both heterozygous carriers of this mutation. This mutation results in the absence of residues E48 and E49 of CytB5, which are necessary for an intact 17,20-lyase activity. Conclusion: We demonstrated 17,20-lyase deficiency due to an aberrant CytB5. Our findings thus provide evidence for an alternative etiology for this disorder.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
AIM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Mar
pubmed:issn
1945-7197
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
95
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
994-9
pubmed:meshHeading
pubmed:year
2010
pubmed:articleTitle
Isolated 17,20-lyase deficiency due to the cytochrome b5 mutation W27X.
pubmed:affiliation
Endocrine Laboratory, Department of Internal Medicine, Erasmus Medical Centre, P.O. Box 2040, 3000 CA Rotterdam, The Netherlands.
pubmed:publicationType
Journal Article, Case Reports