Acne Inversa:One Family Report And Its Mutational Detection

Objective:To study the clinical features and to identify γ-secretase genes mutation of the affected individuals in a Chinese Acne inversa (AI) kindred.Methods:Clinical data and peripheral blood samples of the AI family members were obtained through field investigation. All coding regions of PSEN1, PSENEN and NCSTN were amplified by polymerase chain reaction (PCR), then DNA sequencing and comparative analysis using Basic BLAST program were performed.Results:There were fourteen members of three generations in the family.6cases were diagnosed as AI. There was marked difference of their lesion and state among four living patients. Its genetic map showed that the disease was autosomal dominant inheritance. A missense mutation, c.647A>C (p.216Q>P), in6exon of NCSTN was identified from the proband, and it was cosegregated perfectly with affected, but not with unaffected, members of the family. It was not found in the100unrelated control individuals and the SNP database of NCBI.Conclusions:The c.647A>C in6exon in the NCSTN gene in this family was a novel heterozygous missense mutation responsible for AI. It need further investigate to clarify why different phonetypes of patients in the family caused by the same genotype.