[A novel PORCN gene mutation in a patient with focal dermal hypoplasia]

To detect the mutation of PORCN gene in a patient with focal dermal hypoplasia and study the genotype-phenotype correlation.

Peripheral blood samples were obtained from the family members and control subjects. PCR was carried out to amplify all the exons and adjacent splice sites of PORCN gene and mutation was detected by bidirectional sequencing.

A G149C mutation was found at exon 2 of the PORCN gene in the patient, which caused a change from Alanine to Proline at codon 38 (A38P). The patient presented mild clinical manifestations.

A new missense mutation (A38P) in the PORCN was detected in the patient, which maybe one of the molecular mechanisms in the pathogenesis of the disease. The relationship between G149C genotype and moderate phenotype might be attributed to the influence of A38P missense mutation towards the corresponding protein, which is different from previous results.