Abstract | CONTEXT: 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: 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.
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Authors | Renée C Kok, Marianna A Timmerman, Katja P Wolffenbuttel, Stenvert L S Drop, Frank H de Jong |
Journal | The Journal of clinical endocrinology and metabolism
(J Clin Endocrinol Metab)
Vol. 95
Issue 3
Pg. 994-9
(Mar 2010)
ISSN: 1945-7197 [Electronic] United States |
PMID | 20080843
(Publication Type: Case Reports, Journal Article)
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Chemical References |
- Cytochromes b5
- CYP17A1 protein, human
- Steroid 17-alpha-Hydroxylase
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Topics |
- Adrenal Hyperplasia, Congenital
(genetics)
- Cytochromes b5
(genetics)
- Humans
- Infant, Newborn
- Male
- Mutation
(genetics)
- Polymerase Chain Reaction
- Polymorphism, Single Nucleotide
(genetics)
- Sequence Analysis, DNA
- Steroid 17-alpha-Hydroxylase
(genetics, metabolism)
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