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.
J Eur Acad Dermatol Venereol. 2013 Dec;27(12):1571-4. doi: 10.1111/j.1468-3083.2012.04627.x. Epub 2012 Jul 3.
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.
To determine specific mutations in the γ-secretase gene associated with two Chinese AI families.
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.
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.
We have identified two novel mutations within the NCSTN gene associated with AI.
逆向痤疮（AI；MIM 142690）或化脓性汗腺炎（HS）是一种常染色体显性遗传的皮肤病，由 γ-分泌酶突变引起。γ-分泌酶复合物是一种跨膜蛋白酶，可催化一组膜蛋白的切割，由四个基因编码的四个亚基组成，包括 PSEN1、PSENEN、NCSTN 和 APH1。然而，与 AI 相关的突变差异很大，重要的是要确定与特定 AI 患者相关的特定突变。
确定与两个中国 AI 家族相关的 γ-分泌酶基因突变。
通过先证者分析检查了两个具有明显 AI 症状的三代家族。分离了家族成员和 100 名健康个体的基因组 DNA，并进行聚合酶链反应（PCR）和直接 DNA 测序。
在两个家族中分别鉴定出 NCSTN 基因外显子 6 中的杂合错义突变 c.647A>C（p.Q216P）和外显子 3 中的 c.223G>A（p.V75I）。在 100 名健康个体中未发现突变。
我们在 NCSTN 基因中发现了与 AI 相关的两个新突变。
