Goltz syndrome and PORCN: A view from Europe. Issue 1 (22nd January 2016)

• Record Type: Journal Article
• Authors: Happle, Rudolf
• Other Names: Fete Mary guestEditor.; Fete Timothy J. guestEditor.; Sutton V. Reid guestEditor.
• Is Part Of: American journal of medical genetics. Volume 172:Issue 1(2016)
• Page Start: 21
• Page End: 23
• Publication Date: 2016-01-22
• Subjects: Goltz syndrome -- focal dermal hypoplasia -- functional X‐chromosome mosaicism -- history of molecular analysis -- MLS (MIDAS) syndrome -- Aicardi syndrome -- Xp22.3 versus Xp11.23 -- PORCN mutations; Medical genetics -- Periodicals; 616.04205
• DOI: 10.1002/ajmg.c.31469
• Languages: English
• ISSNs: 1552-4868

Abstract

Abstract : Goltz syndrome (focal dermal hypoplasia) is an X‐linked dominant, multisystem birth defect with lethality for male embryos. The hypoplastic skin lesions follow Blaschko's lines and often show herniation of subcutaneous fatty tissue. Extracutaneous defects mainly involve the brain, the bones, the teeth, and the eyes. All of these anomalies show a segmental arrangement reflecting functional X‐chromosome mosaicism. The present contribution tells the story how the molecular cause of Goltz syndrome was investigated and found by the group of the geneticist Karl–Heinz Grzeschik from Marburg, Germany. © 2016 Wiley Periodicals, Inc.