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

Ingram, John R. ORCID: https://orcid.org/0000-0002-5257-1142, Wood, M., John, B., Butler, R. and Anstey, Alexander Vincent ORCID: https://orcid.org/0000-0002-6345-4144 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:	24 Oct 2022 09:57
URI:	https://orca.cardiff.ac.uk/id/eprint/42713

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