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Absence of pathogenic γ-secretase mutations in a South Wales cohort of familial and sporadic hidradenitis suppurativa (acne inversa)

Ingram, John R., Wood, M., John, B., Butler, R. and Anstey, Alexander Vincent 2013. Absence of pathogenic γ-secretase mutations in a South Wales cohort of familial and sporadic hidradenitis suppurativa (acne inversa). British Journal Of Dermatology 168 (4) , pp. 874-876. 10.1111/bjd.12048

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Abstract

Loss-of-function mutations in the γ-secretase genes NCSTN, PSENEN, and PSEN1 have recently been reported to underlie a subset of familial hidradenitis suppurativa (HS) in Chinese,(1-3) Japanese(4) and European(5-7) populations. In most cases, the HS phenotype was relatively severe and extensive and patients were drawn from multiplex kindreds. Of note, pathogenic γ-secretase mutations were found in only two of seven HS pedigrees examined in a UK study(5) and three out of 14 pedigrees from France.(7) In addition, mutational analysis of NCSTN, PSENEN, and PSEN1 in 48 HS patients referred to a tertiary UK clinic, 20 of whom reported a family history of HS, demonstrated only two pathogenic mutations.(6).

Item Type: Article
Date Type: Publication
Status: Published
Schools: Medicine
Subjects: R Medicine > R Medicine (General)
Publisher: Blackwell Publishing
ISSN: 0007-0963
Last Modified: 04 Jun 2017 04:40
URI: http://orca.cf.ac.uk/id/eprint/42713

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