[Analysis of CYP17A1 gene mutation in a child patient with 17 alpha-hydroxylase/17, 20-lyase deficiency].
OBJECTIVE
To 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.


METHODS
Clinical data were collected. PCR and DNA sequencing were performed to detect mutations in the patient.


RESULTS
The 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.


CONCLUSIONS
A 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.
Medical Genetics Institute of Henan Province, People's Hospital of Henan Province, People's Hospital of Zhengzhou University, Zhengzhou, Henan 450003, P. R. China. ykxiedi1986124@163.com.
Ke
K
Yang
Bing
B
Zhang
Shu-xian
SX
Cui
Qian-nan
QN
Guo
Qiao-fang
QF
Hou
Qian-cheng
QC
Li
Shi-xiu
SX
Liao
D000293:Adolescent; D000312:Adrenal Hyperplasia, Congenital / Q000201:enzymology* / Q000235:genetics; D001483:Base Sequence; D005260:Female; D006801:Humans; D008190:Lyases / Q000172:deficiency / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation; D013254:Steroid 17-alpha-Hydroxylase / Q000235:genetics*
C501892:CYP17A1 protein, human; D013254:Steroid 17-alpha-Hydroxylase; D008190:Lyases