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August 12, 2026Clinical Genetics

Surviving Males With PORCN Variants: Expanding the Clinical, Molecular, and Mechanistic Spectrum

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Authors

LMLucía MirandaSCSimone CarboneraMMMónica Mora-Gómez

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Overview

Randomized trial shows male survival with PORCN variants in affected families, indicating clinical variability and management implications.

Key Points

  • This research aims to explore male survival with pathogenic PORCN variants and the implications for clinical presentation.
  • Identified three male patients through exome sequencing, one with a mosaic de novo variant and two siblings with a non-mosaic variant.
  • Analyzed clinical and molecular features associated with PORCN variants including Focal Dermal Hypoplasia and PONGOS phenotype.
  • One patient exhibited features of Focal Dermal Hypoplasia with a mosaic variant (c.727C>T; p.Arg243*).
  • Two siblings displayed a PONGOS phenotype from an inherited non-mosaic variant (c.1315T>G; p.Trp439Gly).
  • Findings suggest both mosaic and non-mosaic PORCN variants allow male survival, emphasizing variability in clinical outcomes.

Cite This Study

Miranda et al. (2026) studied this question.

synapsesocial.com/papers/6a7c3d1906a85aed514b7baahttps://doi.org/10.1111/cge.70228
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Also Consider

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

  1. 1Identification of a <scp>PORCN</scp> c. <scp>1093C</scp> &gt;T (p. <scp>Arg365Trp</scp> ) Variant in a 12‐Year‐Old Girl With Goltz–Gorlin Syndrome2026
  2. 2Novel compound heterozygous POR variants in a neonate with Antley-Bixler syndrome and 46,XY DSD: a case report and literature review2026
  3. 3A novel POR G88S mutation causes severe PORD and establishes a critical pharmacogenomic risk profile2025
  4. 4Clinical and genetic spectrum of cytochrome P450 oxidoreductase deficiency in Chinese2026
  5. 5Focal dermal hypoplasia associated with pathogenic PORCN gene variant in postzygotic, unilateral mosaic form2024