Genotyping of a Chinese family with 46,XX and 46,XY 17-hydroxylase deficiency

摘要

AbstractBackground. 17-Hydroxylase deficiency is a rare form of congenital adrenal hyperplasia caused by CYP17A1 genemutations.Method. A 46,XY and a 46,XX Chinese patients with 17-hydroxylase deficiency in a family and their four generations familymembers were genotyped by PCR-sequencing method.Results. Two CYP17 gene mutations were identified from these patients. Among them, IVS1-1G > A was a novel splicingmutation which disrupted the acceptor signal of exon 2 and might create a new exon after exon 1. The indel mutation ofTAC329AA was a one-base deletion mutation and one-base change at codon 329 in exon 6.Conclusion. The results confirmed the diagnosis of 17-hydroxylase deficiency in these two patients and their autosomerecessive 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 inthe Asian population. Although the noval mutation IVS1-1G > A founded in this family need more study to know itsmachinism of interrupting P450cl7 function.