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October 12, 2025Open Access

A Novel G88S Mutation in POR Leads to Severe PORD

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Authors

MVMaria Natalia Rojas VelazquezJDJimena Lopez DacalFJFlemming Steen Jørgensen

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Overview

Translational study reveals G88S mutation effects on steroidogenic activity and metabolism in patients, indicating pharmacogenomic importance.

Key Points

  • The G88S mutation in POR is linked to severe steroidogenic dysfunction and poor drug metabolism.
  • All five patients analyzed were homozygous for the c.262G>A mutation, impairing enzymatic activity drastically.
  • In vitro assays showed less than 30% FMN and 15% FAD cofactor stability, leading to significant protein instability.
  • This mutation serves as an important pharmacogenomic marker, suggesting a potential for targeted screening.

Cite This Study

Velazquez et al. (2025) studied this question.

synapsesocial.com/papers/68ebc91af2c3e4d8d926e361https://doi.org/10.20944/preprints202510.0422.v1
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1A novel POR G88S mutation causes severe PORD and establishes a critical pharmacogenomic risk profile2025
  2. 2Novel compound heterozygous POR variants in a neonate with Antley-Bixler syndrome and 46,XY DSD: a case report and literature review2026
  3. 3Sixteen Years of Clinical Data Including Genetic Analysis to Explain Delayed Puberty in a Chinese Boy with 21-Hydroxylase Deficiency: A Case Report2026
  4. 4Clinical and genetic spectrum of cytochrome P450 oxidoreductase deficiency in Chinese2026
  5. 5Live Births Following IVF-FET in Two Adult Sisters with Nonclassic P450 Oxidoreductase Deficiency: A Case Report Identifying a Novel POR Variant2026 · 1 citations