Genotyping of a Chinese family with 46,XX and 46,XY 17-hydroxylase deficiency.
BACKGROUND
17-Hydroxylase deficiency is a rare form of congenital adrenal hyperplasia caused by CYP17A1 gene mutations.


METHODS
A 46,XY and a 46,XX Chinese patients with 17-hydroxylase deficiency in a family and their four generations family members were genotyped by PCR-sequencing method.


RESULTS
Two CYP17 gene mutations were identified from these patients. Among them, IVS1-1G > A was a novel splicing mutation which disrupted the acceptor signal of exon 2 and might create a new exon after exon 1. The indel mutation of TAC329AA was a one-base deletion mutation and one-base change at codon 329 in exon 6.


CONCLUSIONS
The results confirmed the diagnosis of 17-hydroxylase deficiency in these two patients and their autosome recessive heritage mode. The TAC329AA indel mutation had been identified in several reports of Chinese and Asian, suggesting that codon 329 was an unstable point of the CYP17 gene and this mutation was a prevalent CYP17 mutation in the Asian population. Although the noval mutation IVS1-1G > A founded in this family need more study to know its machinism of interrupting P450c17 function.
Tian
Qinjie
Q
Department of Obstetrics and Gynecology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China. qinjietn@yahoo.com
Yao
Fengxia
F
Sha
Guihua
G
Huang
Shangzhi
S
Tseng
Hung
H
Schindler
Adolf E
AE
D000312:Adrenal Hyperplasia, Congenital / Q000235:genetics*; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D005091:Exons; D005260:Female; D017353:Gene Deletion; D005838:Genotype; D006801:Humans; D009154:Mutation; D010375:Pedigree; D016133:Polymerase Chain Reaction; D013254:Steroid 17-alpha-Hydroxylase / Q000235:genetics*; D055815:Young Adult
D013254:Steroid 17-alpha-Hydroxylase