These authors contributed equally to this work.
Two novel mutations of the NCSTN gene in Chinese familial acne inverse
Article first published online: 3 JUL 2012
© 2012 The Authors. Journal of the European Academy of Dermatology and Venereology © 2012 European Academy of Dermatology and Venereology
Journal of the European Academy of Dermatology and Venereology
Volume 27, Issue 12, pages 1571–1574, December 2013
How to Cite
Zhang, C., Wang, L., Chen, L., Ren, W., Mei, A., Chen, X. and Deng, Y. (2013), Two novel mutations of the NCSTN gene in Chinese familial acne inverse. Journal of the European Academy of Dermatology and Venereology, 27: 1571–1574. doi: 10.1111/j.1468-3083.2012.04627.x
Conflict of interest none declared.
- Issue published online: 21 NOV 2013
- Article first published online: 3 JUL 2012
- Received: 6 February 2012; Accepted: 30 May 2012
- National Natural Science Foundation of China. Grant Numbers: 81071357, 31171228
- Research Fund for the Doctoral Program of Higher Education of China. Grant Number: 200804871043
Background Acne inversa (AI; MIM 142690), or hidradenitis suppurativa (HS), is a type of autosomal-dominant genodermatosis caused by mutations in γ-secretase. The complex of γ-secretase is a transmembrane protease that catalyses the cleavage of a set of membrane proteins and is comprised of four subunits encoded by four genes, including PSEN1, PSENEN, NCSTN and APH1. However, mutations associated with AI vary significantly, and it is important to define the specific mutation with a particular AI patient.
Objective To determine specific mutations in the γ-secretase gene associated with two Chinese AI families.
Methods Two families of three generations with apparent AI symptoms were examined through proband analysis. Genomic DNAs of the family members and a cohort of 100 healthy individuals were isolated and subjected to polymerase chain reaction (PCR) and direct DNA sequencing.
Results Two heterozygous missense mutations, c.647A>C (p.Q216P) in the exon 6, and c.223G>A (p.V75I) in the exon 3 of the NCSTN gene, were identified in the two families respectively. No mutations were found in 100 healthy individuals.
Conclusions We have identified two novel mutations within the NCSTN gene associated with AI.