Mutation update for the PORCN gene

Hum Mutat. 2011 Jul;32(7):723-8. doi: 10.1002/humu.21505. Epub 2011 Jun 21.


Mutations in the PORCN gene were first identified in Goltz-Gorlin syndrome patients in 2007. Since then, several reports have been published describing a large variety of genetic defects resulting in the Goltz-Gorlin syndrome, and mutations or deletions were also reported in angioma serpiginosum, the pentalogy of Cantrell and Limb-Body Wall Complex. Here we present a review of the published mutations in the PORCN gene to date and report on seven new mutations together with the corresponding clinical data. Based on the review we have created a Web-based locus-specific database that lists all identified variants and allows the inclusion of future reports. The database is based on the Leiden Open (source) Variation Database (LOVD) software, and is accessible online at At present, the database contains 106 variants, representing 68 different mutations, scattered along the whole coding sequence of the PORCN gene, and 12 large gene rearrangements, which brings up to 80 the number of unique mutations identified in Goltz-Gorlin syndrome patients.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Acyltransferases
  • Databases, Genetic
  • Focal Dermal Hypoplasia / diagnosis
  • Focal Dermal Hypoplasia / genetics*
  • Focal Dermal Hypoplasia / pathology
  • Genetic Diseases, X-Linked / genetics
  • Humans
  • Internet
  • Membrane Proteins / genetics*
  • Pentalogy of Cantrell / genetics
  • Point Mutation / genetics
  • Sequence Deletion / genetics
  • Skin Diseases, Vascular / congenital
  • Skin Diseases, Vascular / genetics


  • Membrane Proteins
  • Acyltransferases
  • PORCN protein, human

Supplementary concepts

  • Angioma serpiginosum, X-linked