Analysis of CYP17A1 gene mutation in a child patient with 17 alpha-hydroxylase/17, 20-lyase deficiency.
- VernacularTitle:一例17α-羟化酶/17,20-碳链裂解酶缺陷症患儿的CYP17A1基因突变分析
- Author:
Ke YANG
1
;
Bing ZHANG
;
Shu-xian CUI
;
Qian-nan GUO
;
Qiao-fang HOU
;
Qian-cheng LI
;
Shi-xiu LIAO
Author Information
- Publication Type:Case Reports
- MeSH: Adolescent; Adrenal Hyperplasia, Congenital; enzymology; genetics; Base Sequence; Female; Humans; Lyases; deficiency; genetics; Molecular Sequence Data; Mutation; Steroid 17-alpha-Hydroxylase; genetics
- From: Chinese Journal of Medical Genetics 2013;30(4):439-442
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo analyze CYP17A1 gene mutations in a child patient with 17 alpha-hydroxylase/17, 20-lyase deficiency (17OHD), and to review characteristics of CYP17A1 gene mutations in Chinese patients with 17OHD.
METHODSClinical data were collected. PCR and DNA sequencing were performed to detect mutations in the patient.
RESULTSThe patient has presented classical features of 17OHD including hypertension, hypokalemia, decreased sex hormones and plasma cortisol, and elevated blood adrenocorticotrophic hormone. A compound heterozygous mutation c.987C>A and c.985del was detected in the CYP17A1 gene, which resulted in two premature stop codons at positions 328 and 417.
CONCLUSIONA compound mutation, c.987C>A and c.985del, has been identified in a patient with 17OHD. Among CYP17A1 gene mutations identified in Chinese patients, missence mutations have been most common, and exons 5 and 8 have been the mutation hotspots.
