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Focal dermal hypoplasia in a male patient due to mosaicism for a novel PORCN single nucleotide deletion
Author(s) -
Vreeburg M,
van Geel M,
van den Heuij LGT,
Steijlen PM,
van Steensel MAM
Publication year - 2011
Publication title -
journal of the european academy of dermatology and venereology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.655
H-Index - 107
eISSN - 1468-3083
pISSN - 0926-9959
DOI - 10.1111/j.1468-3083.2010.03782.x
Subject(s) - germline mosaicism , medicine , genetics , x linked recessive inheritance , gene , mutation , biology , x chromosome
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.