BACKGROUND: 17-Hydroxylase deficiency is a rare form of congenital adrenal hyperplasia caused by CYP17A1 gene mutations. METHOD: 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. CONCLUSION: 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.
BACKGROUND:17-Hydroxylase deficiency is a rare form of congenital adrenal hyperplasia caused by CYP17A1 gene mutations. METHOD: 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. CONCLUSION: 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.
Authors: Eun Yeong Mo; Ji Young Lee; Su Yeon Kim; Min Ji Kim; Eun Sook Kim; Seungok Lee; Je Ho Han; Sung Dae Moon Journal: Endocrinol Metab (Seoul) Date: 2018-09