Focal dermal hypoplasia in a male patient due to mosaicism for a novel PORCN single nucleotide deletion

M. Vreeburg, M. van Geel, L. G. T. van den Heuij, P. M. Steijlen, M. A. M. van Steensel*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

13 Citations (Web of Science)


Background Focal dermal hypoplasia (FDH) is an X-linked dominant disorder caused by nonsense mutations and deletions in the PORCN gene coding for a transmembrane endoplasmic reticulum protein required for Wingless signalling. Symptoms consist mainly of linear atrophic skin defects, skeletal deformities and, in many cases, mental retardation. Osteopathia striata is a nearly constant feature. Approximately 90% of patients are women. A few instances of father-to-daughter transmission and a number of sporadic male cases presumably as a result of somatic mosaicism have been recorded. Objectives The aim of this study was to demonstrate the presence of somatic mosaicism for PORCN mutations in a male patient. Methods We sequenced the PORCN gene in different tissues from a boy with symptoms of FDH. Results We demonstrate post-zygotic mosaicism for a novel deletion in the PORCN gene. Conclusions A novel PORCN deletion, present in a post-zygotic mosaic, causes focal dermal hyplasia in a male patient.
Original languageEnglish
Pages (from-to)592-595
JournalJournal of the European Academy of Dermatology and Venereology
Issue number5
Publication statusPublished - May 2011


  • focal dermal hypoplasia
  • Goltz
  • mosaicism
  • WNT

Cite this