Compound heterozygous variants in POR gene identified by whole-exome sequencing in a Chinese pedigree with cytochrome P450 oxidoreductase deficiency.

ABSTRACT:

Importance

Cytochrome P450 oxidoreductase deficiency (PORD) is a rare disease exhibiting a variety of clinical manifestations. This condition specifically leads to disordered steroidogenesis, which can affect the development of the reproductive system, skeleton, and other parts of the body. The severe form of PORD is difficult to differentiate with Antley-Bixler syndrome (ABS). The genetic characters and clinical evaluation of PORD are still unclear in China.

Objective

To perform an exome analysis and identify the pathogenic cause in order to assist clinicians to obtain a proper evaluation on the genetic condition.

Methods

The proband underwent detailed physical evaluations. DNA of the proband and his parents was isolated and whole-exome sequencing (WES) was performed

SUBMITTER: Hao C 

PROVIDER: S-EPMC7331414 | biostudies-literature | 2018 Jun

REPOSITORIES: biostudies-literature