Focal Dermal Hypoplasia with a De novo Mutation p.E300* of PORCN Gene in a Male Infant

Focal dermal hypoplasia is a rare disorder inherited in an X-linked dominant pattern and is usually antenatally lethal in males. We report a surviving male with postzygotic de novo mutation p.E300* in exon 10 of PORCN gene with mosaicism, earlier reported in a female of Thai origin. This is the first report of this mutation from the Indian subcontinent.