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- Title
A single-amino-acid in-frame deletion in CYP17A1 results in combined 17-hydroxylase and 17,20-lyase deficiency in an Iranian family despite the protein mutation site.
- Authors
Habib, Ashkan; Shojazadeh, Alireza; Molayemat, Mohadeseh; Jafari Khamirani, Hossein; Zoghi, Sina; Dastgheib, Seyed Alireza; Habib, Asadollah
- Abstract
In this study, we detected homozygous mutations in the CYP17A1 gene (NM_000102.4:c.1053_1055delCCT; p.Leu353del; SCV001479329) in a 28-year-old female patient (46,XX) and her phenotypically female 30-year-old sister (46,XY) who had phenotypes consistent with combined 17-hydroxylase and 17,20-lyase deficiency. The phenotypes were not expected based on the location of the mutation in the CYP17A1 redox partner-binding site and a previous description of the same mutation linked with isolated 17,20-lyase deficiency.
- Subjects
AMINO acids; HYDROXYLASES; LYASES; PHENOTYPES; PROTEINS
- Publication
Human Genome Variation, 2021, Vol 8, Issue 1, p1
- ISSN
2054-345X
- Publication type
Article
- DOI
10.1038/s41439-021-00160-y