Wu Jing, Ge Huiyao, Fan Yiming, Zhen Qi, Tang Lili, Sun Liangdan
Department of Dermatology of First Affiliated Hospital, Anhui Medical University, Hefei, China.
Key Laboratory of Dermatology, Ministry of Education, Anhui Medical University, Hefei, China.
Ann Dermatol. 2020 Jun;32(3):237-242. doi: 10.5021/ad.2020.32.3.237. Epub 2020 Apr 24.
Acne inversa is a chronic inflammatory follicular disease with autosomal dominant inheritance. In recent years, many functional mutations in the genes have been identified as the cause of familial acne inversa. Herein, we recruited four patients and seven unaffected individuals from a Chinese family and performed Sanger sequencing of the gene. One novel frameshift mutation, c.450_459del (p.Ser 151GlnfsX48), was identified in exon 5 of the gene. Three normal-looking children carrying the mutation were proven to be patients. We also presented a literature review from previous studies of acne inversa, suggesting that is a hotspot gene for acne inversa. Most affected individuals experienced onset in adolescence. We confirmed the diagnosis in this family based on the mutation. This finding will help expound the relationship between the gene and the pathogenesis of acne inversa and emphasize the value of genetic diagnosis in monogenic disorder.
化脓性汗腺炎是一种具有常染色体显性遗传的慢性炎症性毛囊疾病。近年来，已鉴定出该基因中的许多功能突变是家族性化脓性汗腺炎的病因。在此，我们从一个中国家庭中招募了4名患者和7名未受影响的个体，并对该基因进行了桑格测序。在该基因的外显子5中鉴定出一种新的移码突变，即c.450_459del（p.Ser 151GlnfsX48）。携带该突变的3名外表正常的儿童被证实为患者。我们还对之前关于化脓性汗腺炎的研究进行了文献综述，表明该基因是化脓性汗腺炎的一个热点基因。大多数受影响个体在青春期发病。我们基于该突变在这个家庭中确诊。这一发现将有助于阐明该基因与化脓性汗腺炎发病机制之间的关系，并强调基因诊断在单基因疾病中的价值。
