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Novel Mutation of the NCSTN Gene Identified in a Chinese Acne Inversa Family

Annals of Dermatology 2020년 32권 3호 p.237 ~ 242
 ( Wu Jing ) - Anhui Medical University First Affiliated Hospital Department of Dermatology

 ( Ge Huiyao ) - Anhui Medical University First Affiliated Hospital Department of Dermatology
 ( Fan Yiming ) - Guangdong Medical University Affiliated Hospital Department of Dermatology
 ( Zhen Qi ) - Anhui Medical University First Affiliated Hospital Department of Dermatology
 ( Tang Lili ) - Anhui Medical University First Affiliated Hospital Department of Dermatology
 ( Sun Liangdan ) - Anhui Medical University First Affiliated Hospital Department of Dermatology

Abstract


Acne inversa is a chronic inflammatory follicular disease with autosomal dominant inheritance. In recent years, many functional mutations in the NCSTN 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 NCSTN gene. One novel frameshift mutation, c.450_459del (p.Ser 151GlnfsX48), was identified in exon 5 of the NCSTN 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 NCSTN 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 NCSTN gene and the pathogenesis of acne inversa and emphasize the value of genetic diagnosis in monogenic disorder.

키워드

Chinese patients; Hidradenitis suppurativa; Mutation analysis; NCSTN gene
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