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

被引：1

作者：

Habib, Ashkan ^{[1
]}

Shojazadeh, Alireza ^{[1
]}

Molayemat, Mohadeseh ^{[1
]}

Jafari Khamirani, Hossein ^{[2
,3
]}

Zoghi, Sina ^{[4
]}

Dastgheib, Seyed Alireza ^{[2
]}

Habib, Asadollah ^{[5
]}

机构：

[1] Shiraz Univ Med Sci, Sch Med, Shiraz, Iran

[2] Shiraz Univ Med Sci, Dept Med Genet, Shiraz, Iran

[3] Shiraz Univ Med Sci, Comprehens Med Genet Ctr, Shiraz, Iran

[4] Shiraz Univ Med Sci, Student Res Comm, Shiraz, Iran

[5] Islamic Azad Univ, Sch Med, Dept Endocrinol, Kazerun Branch, Kazerun, Iran

来源：

HUMAN GENOME VARIATION | 2021年 / 8卷 / 01期

关键词：

GENE; SEQUENCE;

D O I：

10.1038/s41439-021-00160-y

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页数：3

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