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

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.

DNA methylation-based subclassification of psoriasis in the Chinese Han population / 医学前沿

Psoriasis (Ps) is an inflammatory skin disease caused by genetic and environmental factors. Previous studies on DNA methylation (DNAm) found genetic markers that are closely associated with Ps, and evidence has shown that DNAm mediates genetic risk in Ps. In this study, Consensus Clustering was used to analyze DNAm data, and 114 Ps patients were divided into three subclassifications. Investigation of the clinical characteristics and copy number variations (CNVs) of DEFB4, IL22, and LCE3C in the three subclassifications revealed no significant differences in gender ratio and in Ps area and severity index (PASI) score. The proportion of late-onset ( ≥ 40 years) Ps patients was significantly higher in type I than in types II and III (P = 0.035). Type III contained the smallest proportion of smokers and the largest proportion of non-smoking Ps patients (P = 0.086). The CNVs of DEFB4 and LCE3C showed no significant differences but the CNV of IL22 significantly differed among the three subclassifications (P = 0.044). This study is the first to profile Ps subclassifications based on DNAm data in the Chinese Han population. These results are useful in the treatment and management of Ps from the molecular and genetic perspectives.

Gene-Gene Interaction between LCE and CLEC16A Increases the Risk of Psoriasis in a Chinese Population

No abstract available.

Association of HLA-DQA1,-DQB1 Genes with Vitiligo in Chinese Hans in Anhui Province / 中华皮肤科杂志

Objective To identify the association of HLA-DQA1 and-DQ B1 alleles with vitiligo in Chinese Hans in Anhui province.Methods Polymerase chain reaction sequence-specific primer (PCR-SSP) method was used to analyze the distribution of HLA-DQA1 and-DQB1 alleles among 187 patients with vitiligo and 273 healthy controls.Results The frequencies of HLA-DQA1*0302,-DQB1*0303,-DQB1*0503 alleles were significantly increased in the patients with vitiligo compared with those in the controls,and HLA-DQA1*0501 allele frequency was mark edly decreased.HLA-DQA1*0302,-DQA1*0601,-DQB1*0303,-DQB1*0503 alleles were p ositively associated,whereas HLA-DQA1*0501 allele was negatively associated wit h childhood vitiligo,and HLA-DQB1*0303 allele was positively associated with ad ult vitiligo,in comparison with those in the controls.The frequency of HLA-DQB 1*0303 allele was significantly increased in localized vitiligo patients compare d with that in the controls,whereas frequencies of HLA-DQA1*0302,-DQB1*0303,-DQB1*0503 alleles were significantly increased and the frequency of HLA-DQA1*050 1 allele was markedly decreased in generalized vitiligo patients.Conclusions HLA-DQA1*0302,-DQA1*0601,-DQB1*0303 and-DQB1*0503 alleles could be the suscep tible alleles of vitiligo,while HLA-DQA1*0501 allele could be the protective al lele in Chinese Hans in Anhui province.There may be different genetic backgroun ds between childhood and adult patients,and between localized and generalized vitiligo.

Rapid Detection of Mutations of Neisseria gonorrhoeae gyrA Gene Using DNA Chip / 中华皮肤科杂志

Objective To develop a new method-DNA chip to be used for rapid detection of mutations of Neisseria gonorrhoeae gyrA gene. Methods Probes were designed according to the sequence of Neisseria gonorrhoeae gyrA genes, and DNA chip was fabricated accordingly. DNA fragment which contains gyrA gene mutation was amplified using PCR technique, labeled with Cy5 fluorescence, and then hybridized with DNA chip. Results of DNA sequencing were used as the control. Results All of the 50 urogenital swab specimens were detected using DNA chip. The consistency between the DNA chip and drug sensitivity test, and between the DNA chip and DNA sequencing were 100% and 98%, respectively. Conclusions DNA chip is a rapid technique with high sensitivity and specificity for the detection of mutations of Neisseria gonorrhoeae gyrA gene. This method can be used for the detection of drug resistance in clinical practice.