CYP17A1基因中的一个单氨基酸框内缺失导致一个伊朗家族出现17α-羟化酶和17,20-裂解酶联合缺乏，尽管蛋白质突变位点不同。
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.
作者信息
Habib Ashkan, Shojazadeh Alireza, Molayemat Mohadeseh, Jafari Khamirani Hossein, Zoghi Sina, Dastgheib Seyed Alireza, Habib Asadollah
机构信息
School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran.
Department of Medical Genetics, Shiraz University of Medical Sciences, Shiraz, Iran.
出版信息
Hum Genome Var. 2021 Jul 21;8(1):31. doi: 10.1038/s41439-021-00160-y.
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.
在本研究中，我们在一名28岁女性患者（46,XX）及其表型为女性的30岁妹妹（46,XY）中检测到CYP17A1基因（NM_000102.4:c.1053_1055delCCT；p.Leu353del；SCV001479329）的纯合突变，她们的表型与17α-羟化酶和17,20-裂解酶联合缺乏一致。基于该突变在CYP17A1氧化还原伙伴结合位点的位置以及先前关于该相同突变与孤立性17,20-裂解酶缺乏相关的描述，这些表型是出乎意料的。
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