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Transcriptome sequencing of differentially expressed genes in acne inversa (AI) patients with NCSTN mutation and healthy individuals

ABSTRACT: Transcriptome sequencing of differentially expressed genes in acne inversa (AI) patients with NCSTN mutation and healthy individuals

PROVIDER: PRJNA473795 | ENA |

REPOSITORIES: ENA

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			Action	DRS
	SRR7235090_1.fastq.gz	Fastqsanger.gz
	SRR7235090_2.fastq.gz	Fastqsanger.gz
	SRR7235091_1.fastq.gz	Fastqsanger.gz
	SRR7235091_2.fastq.gz	Fastqsanger.gz
	SRR7235092_1.fastq.gz	Fastqsanger.gz

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Transcriptome sequencing of differentially expressed genes in acne inversa (AI) patients with NCSTN mutation and healthy individuals

Project description:To elucidate the relationship between NCSTN mutations and familial AI pathogenesis by investigating differential gene expression, we have employed transcriptome sequencing profiling as a discovery platform to identify genes with the potential to be involved in familial AI pathogenesis. Skin biopsies were obtained from the lesions of AI patients with NCSTN mutations . Control skin tissues were obtained from healthy individuals undergoing cosmetic surgery procedures

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miRNA expression signatures of acne inversa (AI) patients with NCSTN mutations and healthy individuals

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Project description: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.

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