Surviving Males With PORCN Variants: Expanding the Clinical, Molecular, and Mechanistic Spectrum.
Lucía Miranda-Alcaraz, Simone Carbonera, Mónica Mora-Gómez et al.
✦ AI-curated · Sources linked
Case in brief
Three male patients with pathogenic variants in the PORCN gene were identified through exome sequencing. One patient exhibited features of focal dermal hypoplasia (FDH) due to a mosaic de novo variant, while two siblings presented with a PONGOS phenotype linked to an inherited non-mosaic variant from their unaffected carrier mother. These cases demonstrate that males can survive with both types of PORCN variants.
Diagnostic / clinical pearl
Clinicians should recognize that male patients with PORCN variants can present with varying phenotypes, including milder forms, and that survival is possible with both mosaic and non-mosaic variants.
Why it matters
This case underscores the importance of understanding the clinical variability associated with PORCN variants, which has significant implications for genetic counseling and management in families with carrier mothers.