title: Two novel mutations of the nicastrin gene in Chinese patients with acne inversa.
abstract: Acne inversa (AI, OMIM 142690), also called hidradenitis suppurativa, is a chronic, inflammatory, recurrent and debilitating skin follicular disease that usually presents after puberty with painful, deep-seated, inflamed lesions in the apocrine gland-bearing areas of the body, most commonly the axilla, inguinal and anogenital regions.(1) The prevalence of AI has been estimated at 1 in 100 to 1 in 600.(2) Of patients with AI, 35-40% have a positive family history.(3) The pattern of transmission is consistent with autosomal dominant inheritance.(4) In 2006, Gao et al.(5) mapped the AI gene at chromosome 1p21.1-1q25.3. In 2010, Wang et al.(6) were the first to identify mutations of γ-secretase genes responsible for AI among six Chinese families. γ-Secretase is a transmembrane protease composed of four essential protein subunits: one catalytic presenilin (PSEN1) subunit and three cofactor subunits [presenilin enhancer 2 (PSENEN), nicastrin (NCSTN) and anterior pharynx defective 1 (APH1)]. Two, one and three mutations were found in PSENEN, PSEN1 and NCSTN, respectively. Here, we report a heterozygous nonsense c.1695T>G mutation and a heterozygous missense c.632C>G mutation of the NCSTN gene in two Chinese AI families.
authors.affiliation: Institute of Dermatology, Chinese Academy of Medical Sciences, Nanjing, Jiangsu 210042, China.
authors.forename: C-R
authors.initials: CR
authors.lastname: Li
authors.forename: M-J
authors.initials: MJ
authors.lastname: Jiang
authors.forename: D-B
authors.initials: DB
authors.lastname: Shen
authors.forename: H-X
authors.initials: HX
authors.lastname: Xu
authors.forename: H-S
authors.initials: HS
authors.lastname: Wang
authors.forename: X
authors.initials: X
authors.lastname: Yao
authors.forename: Y
authors.initials: Y
authors.lastname: Zhang
authors.forename: W-Q
authors.initials: WQ
authors.lastname: Zhou
authors.forename: B
authors.initials: B
authors.lastname: Wang
mesh_terms: D053829:Amyloid Precursor Protein Secretases / Q000235:genetics*; D018389:Codon, Nonsense / Q000235:genetics*; D005260:Female; D006579:Heterozygote; D017497:Hidradenitis Suppurativa / Q000235:genetics*; D006801:Humans; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics*; D008875:Middle Aged; D010375:Pedigree; D055815:Young Adult
chemical_list: D018389:Codon, Nonsense; D008562:Membrane Glycoproteins; C413604:nicastrin protein; D053829:Amyloid Precursor Protein Secretases