Clinical and genetic analysis of a pedigree affected with cytochrome P450 oxidoreductase deficiency.

VernacularTitle:一个细胞色素P450氧化还原酶缺陷症家系的临床特征及遗传学病因研究
Author: Hongying LI ¹ ; Rui DONG ; Kaihui ZHANG ; Yuqiang LYU ; Min GAO ; Zhongtao GAI ; Yi LIU
Author Information

1. Department of Genetics and Endocrinology, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, China. liuyi-ly@126.com.
Publication Type:Journal Article
From: Chinese Journal of Medical Genetics 2020;37(9):1005-1008
CountryChina
Language:Chinese
Abstract: OBJECTIVE:To explore the clinical features and molecular basis of a Chinese pedigree with two siblings affected by cytochrome P450 oxidoreductase deficiency (PORD).
METHODS:Clinical features of the patients were reviewed, and their genomic DNA was subjected to next generation sequencing (NGS).
RESULTS:The two siblings presented peculiar facies, genital hypoplasia and skeletal deformity. NGS revealed that both have carried compound heterozygous variants of the POR gene, namely c.1370G>A and c.517-19_517-10delGGCCCCTGTGinsC, which were respectively inherited from their parents.
CONCLUSION:Both siblings were diagnosed with PORD based on sequencing of the POR gene. The newly discovered POR c.517-19_517-10delGGCCCCTGTGinsC has enriched the spectrum of PORD-related genetic variants.