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
|
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: | 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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