Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia.

Department of Human Genetics, University of Marburg, Bahnhofstr. 7, 35033 Marburg, Germany.
Nature Genetics (Impact Factor: 29.65). 08/2007; 39(7):833-5. DOI: 10.1038/ng2052
Source: PubMed

ABSTRACT Focal dermal hypoplasia (FDH) is an X-linked dominant multisystem birth defect affecting tissues of ectodermal and mesodermal origin. Using a stepwise approach of (i) genetic mapping of FDH, (ii) high-resolution comparative genome hybridization to seek deletions in candidate chromosome areas and (iii) point mutation analysis in candidate genes, we identified PORCN, encoding a putative O-acyltransferase and potentially crucial for cellular export of Wnt signaling proteins, as the gene mutated in FDH. The findings implicate FDH as a developmental disorder caused by a deficiency in PORCN.

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