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

Ashkan Habib; Alireza Shojazadeh; Mohadeseh Molayemat; Hossein Jafari Khamirani; Sina Zoghi; Seyed Alireza Dastgheib; Asadollah Habib

doi:10.1038/s41439-021-00160-y

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

Hum Genome Var. 2021 Jul 21;8(1):31. doi: 10.1038/s41439-021-00160-y.

Authors

Ashkan Habib¹, Alireza Shojazadeh¹, Mohadeseh Molayemat¹, Hossein Jafari Khamirani^{2

3}, Sina Zoghi⁴, Seyed Alireza Dastgheib², Asadollah Habib⁵

Affiliations

¹ School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran.
² Department of Medical Genetics, Shiraz University of Medical Sciences, Shiraz, Iran.
³ Comprehensive Medical Genetic Center, Shiraz University of Medical Sciences, Shiraz, Iran.
⁴ Student Research Committee, Shiraz University of Medical Sciences, Shiraz, Iran.
⁵ Department of Endocrinology, School of Medicine, Kazerun Branch, Islamic Azad University, Kazerun, Iran. habib1343@yahoo.com.

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.