细胞色素P450氧化还原酶缺乏症的POR基因突变研究

Study on the mutation of POR gene in cytochrome P450 oxidoreductase deficiency

目的分析1例细胞色素P450氧化还原酶缺乏症患者的临床和基因突变特点,为明确患者的诊断提供依据。方法收集甘肃省妇幼保健院1例因肾上腺皮质增生而就诊的患者的临床资料,并进行高通量测序,分析细胞色素氧化还原酶缺乏症POR基因突变与临床表型的相关性。结果发现患者POR基因存在c.1820A>G(p.Y607C)和c.830+5G>A(splicing)复合杂合突变,其中c.830+5G>A(splicing)为国内外首次报道。结论除了经典的PORD外,POR基因还有一些致病性较轻的突变。

Objective To analyze the clinical and gene mutation characteristics of a patient with cytochrome P450oxidoreductase deficiency,and to provide a basis for clarifying the diagnosis of the patient.Methods The clinical data of a patient with adrenal hyperplasia in Gansu Provincial Maternity and Child-care Hospital was collected,and high-throughput sequencing was performed to analyze the correlation between the POR gene mutation of cytochrome oxidoreductase deficiency and the clinical phenotype.Results It was found that there were compound heterozygous mutations of c.1820A>G(p.Y607C)and c.830+5G>A(splicing)in the patient’s POR gene.Among them,c.830+5G>A(splicing)was reported for the first time at home and abroad.Conclusion In addition to the classic PORD,there are some mutations in the POR gene that are less pathogenic.