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


OBJECTIVE
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.
Vreeburg
M
M
Department of Clinical Genetics Dermatology, Maastricht University Medical Center, Maastricht, the Netherlands.
van Geel
M
M
van den Heuij
L G T
LG
Steijlen
P M
PM
van Steensel
M A M
MA
D000217:Acyltransferases; D002675:Child, Preschool; D005489:Focal Dermal Hypoplasia / Q000235:genetics*; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009030:Mosaicism; D017384:Sequence Deletion / Q000235:genetics*
D008565:Membrane Proteins; D000217:Acyltransferases; C491188:PORCN protein, human