Familial hidradenitis suppurativa

Gene: PSENEN

Comment when marking as ready: PSENEN marked as ready, June 20th 2017.

Created: 20 Jun 2017, 9:27 a.m.

Comment on list classification: Updated rating from Red to Green: Green expert review plus >3 unrelated cases of PSENEN mutations causing HS (also called acne inversa).

Created: 20 Jun 2017, 9:27 a.m.

Comment on mode of inheritance: Monoallelic MOI supported by OMIM and literature.

Created: 20 Jun 2017, 9:25 a.m.

2 novel mutations of PSENEN gene were identified in Zhou et al., 2016 (PMID:27900998 ) in two Chinese familes with Acne inversa (AI), also called hidradenitis suppurativa: c.194T>G (p.L65R) and a splice site mutation c.167-2A>G.

Created: 20 Jun 2017, 9:25 a.m.

PMID:21412258 (Pink et al., 2011) report a heterozygous c.66_67insG insertion (p.Phe23ValfsX98) in PSENEN in 2 individuals from an affected pedigree with HS (acne inversa). The mutation was absent in unaffected family members.

Created: 20 Jun 2017, 9:25 a.m.

2 unrelated Chinese families with HS (acne inversa) and PSENEN mutations reported in PMID:20929727 (Wang et al., 2010): 66delG (F23LfsX46) and 279delC (F94SfsX51).

Created: 20 Jun 2017, 9:24 a.m.

Green List (high evidence)

PSENEN, NCSTN and PSEN1 should be green as they form the gamma-secretase complex, and pathogenic mutations have been described therein, notwithstanding that collectively they account for only approximately 7% of all HS.

Created: 20 Jun 2017, 8:21 a.m.