CYP17A1 mutations identified in 17 Chinese patients with 17α-hydroxylase/17,20-lyase deficiency

Abstract

Context: 17α-hydroxylase deficiency (17OHD) is a relatively rare disease, accounting for about 1% of congenital adrenal hyperplasia cases. The CYP17A1 gene mutation can lead to this disease. Human CYP17A1 gene is located on chromosome 10q24.3. It consists of eight exons encoding 508 amino acids. To date, more than 50 mutations in exons and introns of the CYP17A1 gene have been reported to cause complete or partial 17OHD. Objective: The aim of this study was to investigate the CYP17A1 gene mutation types in 17 Chinese patients, containing 11 complete and six partial 17OHD patients. Setting: We conducted the study in the Department of Obstetrics and Gynecology of Peking Union Medical College Hospital. Patients: Seventeen patients were studied with complete or partial 17OHD. Main outcome measures: The CYP17A1 gene was sequenced and we measured steroid and sex hormone levels. Results: Analysis of the CYP17A1 gene in our patients revealed 12 different kinds of mutation. Two mutations (IVS1-1G>A and L209P) were novel mutations. Mutation c.985_987delTACinsAA (Y329KfsX418) in Exon 6 was the most common mutation in Chinese patients, accounting for 50 percents of the mutant alleles (17/34). Exon 6 was the hot spot since most mutations were detected in this exon (59%, 20/34 alleles). There was no mutation detected in the Exons 4 and 5.

Keywords::

• Androgens
• estrogens
• endometrium

Acknowledgements

We thank the patients of their collaboration. We are grateful for the financial support of National Natural Science Foundation of China (81000252).

Declaration of Interest: This project was supported by the National Natural Science Foundation of China (No.81000252).

The authors report no other conflicts of interest

Notice of Correction

The version of this article published online ahead of print on 10 Sept 2012 contained a few errors on page 1, in the authors affiliations. Shangzhi Huang is affiliated with the “Department of Medical Genetics, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, People’s Republic of China” and not the “Department of Obstetrics and Gynecology, Peking Union Medical College Hospital, Beijing, China”. Weimin Zhang and Qinjie Tian are affiliated with the “Department of Obstetrics and Gynecology, Peking Union Medical College Hospital, Chinese Academy of Medical Science, Beijing, People’s Republic of China” and not the “Department of Medical Genetics, Chinese Academy of Medical Sciences, and Peking Union Medical College, Beijing, China.” Furthermore, there is no affiliation 4 and so this has been deleted. These errors have been corrected for this version.