Wang et al (2010) discovered an "acne inversa locus§ in a segment on chromosome 19q13 in a large fourth-generation Han Chinese family, and each family had a frameshift mutation in the PSENEN gene (607632.0001, 607632.0002).
Pink et al (2011) screened 7 families with hidradenitis suppurativa for mutations in 3 acne inversa-associated genes and identified heterozygosity for a 1-bp insertion in the PSENEN gene (607632.0003) in an affected mother and daughter.
Zhou et al (2016) sequenced three genes associated with acne inversa in two unrelated fourth-generation Chinese families with acne inversa and Dowling-Degos disease and identified heterozygosity for mutations in the PSENEN gene: a missense mutation in family 1 (L65R; 607632.0004) and a splice site mutation in family 2 (607632.0005).
Ralser et al. (2017) performed exome sequencing in 10 patients from 6 unrelated families diagnosed with Dowling-Degos disease, all of whom were negative for mutations in DDD-associated genes and 6 of whom also had acne inversa, and identified heterozygous mutations in the PSENEN gene that segregated with the disease in each family and were not found in public variant databases.
Li et al. (2017) also reported an additional large Chinese pedigree spanning four generations with acne inversa and an L65R mutation (607632.0004) in the PSENEN gene.