title: Two novel mutations of the NCSTN gene in Chinese familial acne inverse.
abstract: 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.
authors: Core Laboratory, Department of Anesthesiology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430030, ChinaDepartment of Dermatology, Qichun County Renmin Hospital, Qichun, Hubei 435300, ChinaDepartment of Dermatology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430030, China.
authors: C
authors: C
authors: Zhang
authors: L
authors: L
authors: Wang
authors: L
authors: L
authors: Chen
authors: W
authors: W
authors: Ren
authors: A
authors: A
authors: Mei
authors: X
authors: X
authors: Chen
authors: Y
authors: Y
authors: Deng
mesh_terms: D000328:Adult; D053829:Amyloid Precursor Protein Secretases / Q000235:genetics*; D002681:China; D005260:Female; D017497:Hidradenitis Suppurativa / Q000235:genetics*; D006801:Humans; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics*; D008875:Middle Aged; D020125:Mutation, Missense; D010375:Pedigree; D016133:Polymerase Chain Reaction
chemical_list: D008562:Membrane Glycoproteins; C413604:nicastrin protein; D053829:Amyloid Precursor Protein Secretases