What does this research mean for the field?

Chinese patients with cytochrome P450 oxidoreductase deficiency (PORD) exhibit broad clinical heterogeneity, with p.R457H serving as a recurrent East Asian-enriched variant that accounts for half of the alleles in this population. Novelty: ClaimNovelty.INCREMENTAL. Consensus alignment: ConsensusAlignment.NEUTRAL.

What question did this study set out to answer?

To delineate the clinical, hormonal, and mutational spectrum of cytochrome P450 oxidoreductase deficiency (PORD) in Chinese patients and estimate its population genetic prevalence.

August 22, 2026Endocrine ConnectionsOpen Access

Clinical and genetic spectrum of cytochrome P450 oxidoreductase deficiency in Chinese

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Authors

TWTingTing WangFirst Affiliated Hospital of Zhengzhou University CLChong LiFirst Affiliated Hospital of Zhengzhou University CHChao HanFirst Affiliated Hospital of Zhengzhou University

Discussion

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Implication

Systematic review and case series uncovers broad phenotypic heterogeneity and recurrent mutations in Chinese patients with oxidoreductase deficiency, highlighting population-specific genetic risk.

Key Points

To delineate the clinical, hormonal, and mutational spectrum of cytochrome P450 oxidoreductase deficiency (PORD) in Chinese patients and estimate its population genetic prevalence.
Analyzed two newly diagnosed Chinese probands and conducted a systematic review of 38 previously published Chinese cases to evaluate clinical, endocrine, skeletal, and reproductive phenotypes.
Extracted POR gene variants across the pooled cohort of 40 unique patients.
Estimated carrier frequency and modeled genetic prevalence using the gnomAD and Westlake BioBank for Chinese (WBBC) genomic databases.
Identified the recurrent p.R457H mutation in 40 of 80 alleles (50.0%) across the cohort, alongside a novel frameshift variant, p.N178Efs*28.
Modeled genetic prevalence of PORD was estimated at 2.4 per 1,000,000 individuals in WBBC Chinese and 3.3 per 1,000,000 individuals in gnomAD East Asians using an exploratory variant set.

Cite This Study

Wang et al. (2026) studied this question.

synapsesocial.com/papers/6a895ed9ca7ade938187d10d https://doi.org/10.1530/ec-26-0247

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August 22, 2026Endocrine ConnectionsOpen Access

Clinical and genetic spectrum of cytochrome P450 oxidoreductase deficiency in Chinese

View Full Paper

Ask AI

Bookmark

Authors

TWTingTing WangFirst Affiliated Hospital of Zhengzhou University CLChong LiFirst Affiliated Hospital of Zhengzhou University CHChao HanFirst Affiliated Hospital of Zhengzhou University

Discussion

Member takes

Implication

Systematic review and case series uncovers broad phenotypic heterogeneity and recurrent mutations in Chinese patients with oxidoreductase deficiency, highlighting population-specific genetic risk.

Key Points

To delineate the clinical, hormonal, and mutational spectrum of cytochrome P450 oxidoreductase deficiency (PORD) in Chinese patients and estimate its population genetic prevalence.
Analyzed two newly diagnosed Chinese probands and conducted a systematic review of 38 previously published Chinese cases to evaluate clinical, endocrine, skeletal, and reproductive phenotypes.
Extracted POR gene variants across the pooled cohort of 40 unique patients.
Estimated carrier frequency and modeled genetic prevalence using the gnomAD and Westlake BioBank for Chinese (WBBC) genomic databases.
Identified the recurrent p.R457H mutation in 40 of 80 alleles (50.0%) across the cohort, alongside a novel frameshift variant, p.N178Efs*28.
Modeled genetic prevalence of PORD was estimated at 2.4 per 1,000,000 individuals in WBBC Chinese and 3.3 per 1,000,000 individuals in gnomAD East Asians using an exploratory variant set.

Cite This Study

Wang et al. (2026) studied this question.

synapsesocial.com/papers/6a895ed9ca7ade938187d10d https://doi.org/10.1530/ec-26-0247

Also Consider

Synapse has enriched 3 closely related papers on similar clinical questions. Consider them for comparative context:

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