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,Human Genome Variation

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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
Human Genome Variation ( IF 1.0 ) Pub Date : 2021-07-21 , DOI: 10.1038/s41439-021-00160-y
Ashkan Habib ₁ , Alireza Shojazadeh ₁ , Mohadeseh Molayemat ₁ , Hossein Jafari Khamirani _{2,

3} , Sina Zoghi ₄ , Seyed Alireza Dastgheib ₂ , Asadollah Habib ₅

Affiliation

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.

中文翻译：

尽管存在蛋白质突变位点，但 CYP17A1 中的单个氨基酸框内缺失导致伊朗家庭中的 17-羟化酶和 17,20-裂解酶联合缺乏

在这项研究中，我们在一名 28 岁女性患者 (46,XX) 和她的表型女性 30 岁中检测到 CYP17A1 基因 (NM_000102.4:c.1053_1055delCCT; p.Leu353del; SCV001479329) 的纯合突变姐姐 (46,XY) 的表型与 17-羟化酶和 17,20-裂解酶联合缺乏症一致。基于 CYP17A1 氧化还原配偶体结合位点中突变的位置以及先前对与孤立的 17,20-裂合酶缺乏相关的相同突变的描述，预计不会出现表型。

更新日期：2021-07-22

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