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

Journal of the European Academy of Dermatology and Venereology : JEADV
M VreeburgM A M van Steensel

Abstract

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. The aim of this study was to demonstrate the presence of somatic mosaicism for PORCN mutations in a male patient. We sequenced the PORCN gene in different tissues from a boy with symptoms of FDH. We demonstrate post-zygotic mosaicism for a novel deletion in the PORCN gene. A novel PORCN deletion, present in a post-zygotic mosaic, causes focal dermal hyplasia in a male patient.

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Citations

Jun 18, 2011·Der Hautarzt; Zeitschrift für Dermatologie, Venerologie, und verwandte Gebiete·T KornekK Herberger
Nov 2, 2012·European Journal of Pediatrics·M Vreeburg, M A M van Steensel
Jul 22, 2014·International Journal of Dermatology·David A StevensonKarin Dent
Jan 13, 2018·Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research·Glenda ComaiAndreas Schedl
Apr 13, 2013·Clinical Genetics·M VreeburgD Marcus-Soekarman
Mar 3, 2020·Frontiers in Endocrinology·Robert Brommage, Claes Ohlsson

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