Analysis of <italic>CYP17A1</italic> gene variants in 5 patients with 17-hydroxylase deficiency

Ruizhi Zheng; Ziying HU; Junpeng Yang; Yun Zhang; Yanfang Wang; Qian Yuan; Jiada LI

Return

Analysis of CYP17A1 gene variants in 5 patients with 17-hydroxylase deficiency

VernacularTitle: 五例17α-羟化酶缺陷症患者的CYP17A1基因突变分析
Author: Ruizhi ZHENG ¹ ; Ziying HU ¹ ; Junpeng YANG ¹ ; Yun ZHANG ¹ ; Yanfang WANG ¹ ; Qian YUAN ¹ ; Jiada LI ²
Author Information

1. Department of Endocrinology, Henan Provincial People’s Hospital, Zhengzhou, Henan 450003, China
2. School of Life Sciences, Central South University, Changsha, Hunan 410078, China
Publication Type:Journal Article
Keywords: Congenital adrenal hyperplasia; 17 alpha-hydroxylase defect; CYP17A1 gene; Mutation
From: Chinese Journal of Medical Genetics 2019;36(9):877-881
CountryChina
Language:Chinese
Abstract: Objective:To identify pathogenic variants in 5 sporadic patients and two Chinese pedigrees affected with 17-hydroxylase deficiency (17-OHD).
Methods:Peripheral blood samples were collected with informed consent. Variants of CYP17A1 gene were screened by PCR and Sanger sequencing. Suspected mutations were validated in other members of the pedigrees.
Results:Gene sequencing has identified a homozygous c. 985_987delTACinsAA (Y329Kfs) mutation in exon 6 of the CYP17A1 gene in 4 patients and the sister of case 3. Case 1 was found to harbor compound heterozygous mutations c. 1459_1467del9 (p.D487_F489del) and c. 1244-3C>A. The parents and brother of cases 2 and 5 were heterozygous carriers of a c. 985_987delTACinsAA(Y329Kfs) mutation.
Conclusion:Mutations of the CYP17A1 gene probably underlie the pathogenesis of 17-OHD, for which c. 985_987delTACinsAA(Y329Kfs) is the most common. The c. 1244-3C>A is a novel mutation. Above results have facilitated genetic counseling for the affected families.