Analysis of CYP17A1 gene variants in 5 patients with 17-hydroxylase deficiency.
10.3760/cma.j.issn.1003-9406.2019.09.006
- Author:
Ruizhi ZHENG
1
;
Ziying HU
;
Junpeng YANG
;
Yun ZHANG
;
Yanfang WANG
;
Qian YUAN
;
Jiada LI
Author Information
1. Department of Endocrinology, Henan Provincial People's Hospital, Zhengzhou, Henan 450003, China. lijiada@sklmg.edu.cn.
- Publication Type:Journal Article
- MeSH:
Adrenal Hyperplasia, Congenital;
genetics;
Exons;
Female;
Humans;
Male;
Mutation;
Pedigree;
Steroid 17-alpha-Hydroxylase;
genetics
- 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.
