# Identification of a PORCN c.1093C>T (p.Arg365Trp) Variant in a 12‐Year‐Old Girl With Goltz–Gorlin Syndrome

**Authors:** Anna Bolzon, Francesca Caroppo, Lisa Passaglia, Francesca Boaretto, Leonardo Salviati, Anna Belloni Fortina

PMC · DOI: 10.1002/ccr3.71592 · Clinical Case Reports · 2026-02-02

## TL;DR

A 12-year-old girl with Goltz–Gorlin syndrome was found to have a specific genetic variant previously seen only in a male with Klinefelter syndrome.

## Contribution

This is the first reported case of the PORCN c.1093C>T variant in a female with Goltz–Gorlin syndrome.

## Key findings

- The PORCN c.1093C>T variant was identified in a female with Goltz–Gorlin syndrome.
- This expands the phenotypic and genotypic understanding of focal dermal hypoplasia (FDH).

## Abstract

We report the first female case of Goltz–Gorlin syndrome with the PORCN c.1093C>T (p.Arg365Trp) variant, previously described only in a male with Klinefelter syndrome. This case expands the known phenotypic and genotypic spectrum of FDH.

## Linked entities

- **Genes:** PORCN (porcupine O-acyltransferase) [NCBI Gene 64840]
- **Diseases:** Goltz–Gorlin syndrome (MONDO:0010592), Klinefelter syndrome (MONDO:0006823), focal dermal hypoplasia (MONDO:0010592)

## Full-text entities

- **Genes:** PORCN (porcupine O-acyltransferase) [NCBI Gene 64840] {aka DHOF, FODH, MG61, PORC, PPN}
- **Diseases:** FDH (MESH:D005489), Klinefelter syndrome (MESH:D007713)
- **Mutations:** p.Arg365Trp, c.1093C>T

## Full text

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## Figures

5 figures with captions in the complete paper: https://tomesphere.com/paper/PMC12865130/full.md

## References

9 references — full list in the complete paper: https://tomesphere.com/paper/PMC12865130/full.md

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Source: https://tomesphere.com/paper/PMC12865130