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Article

Functional and structural characterization of POR splicing variants reveals pathogenic mechanisms in PORD.

Frontiers in endocrinology - 1 Jan 2026

Zhang Xin Jie, Zhou Fei Yu, Xu Xiao Wei, Wang Chao, Qian Ying, Gong Chao Yu, Sheng Wen Chao, Shu Jian Bo, Cai Chun Quan, Zhang Ming Ying

Abstract excerpt

Background: Pathogenic POR variants cause P450 oxidoreductase deficiency, a rare steroidogenesis disorder. Missense changes are well characterized, but the clinical and molecular consequences of splicing defects remain unclear. Methods: We identified a novel homozygous splice variant (c.1249-2A>C) in a patient with disorders of sex development and Antley-Bixler syndrome -like skeletal malformations. By reviewing...

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Identifiers

PMID: 42125235
DOI: 10.3389/fendo.2026.1807069
PMCID: PMC13158119

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POR

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