Two novel mutations of the NCSTN gene in Chinese familial acne inverse

Zhang, C.; Wang, L.; Chen, L.; Ren, Weiping; Mei, Aihua; Chen, X.; Deng, Yangyang

doi:10.1111/j.1468-3083.2012.04627.x

Cited by 37 publications

(29 citation statements)

References 17 publications

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“…HS was first associated to chromosomal region 1p21Á1-1q25Á3, and subsequently mutations were identified in multiple genes of the csecretase complex in subsets of patients. [93][94][95] The genetic association of c-secretase genes with HS was confirmed with mutations in PSENEN (MIM 607632), PSEN1 (MIM 104311) and NCSTN (MIM 605254), [95][96][97][98][99][100] making it allelic to Alzheimer disease. 101 Reticulate hyperpigmentation similar to that observed in Dowling-Degos disease has also been reported together with HS in patients with PSENEN mutations (MIM 613736).…”

Section: Hidradenitis Suppurativa (Mim 142690)mentioning

confidence: 99%

What does acne genetics teach us about disease pathogenesis?

2019

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Summary Background Acne vulgaris is a highly prevalent inflammatory skin disorder with a complex pathogenesis, characterized by comedones, papules, pustules and nodules. Familial preponderance clearly indicates a genetic basis for acne vulgaris, but until recently solid genetic associations were lacking. Results The advent of high‐resolution genotyping array technologies has allowed for large‐scale studies with both family‐based and cross‐sectional designs. These studies have revealed genetic loci encompassing genes that could be active in biological pathways and processes underlying acne vulgaris. However, specific functional consequences of those variants remain elusive. In parallel, investigations into rare disorders and syndromes that incorporate features of acne or acne‐like lesions have recently accelerated our understanding of disease pathogenesis. The genes revealed by these rare disorders highlight mechanisms cardinal for pilosebaceous biology and therefore anchor our insights from genetic association studies for acne vulgaris. Conclusions The next phase of research will require more in‐depth mechanistic investigations of loci and genes implicated in acne phenotypes to define the key molecular players driving the disorder. Concurrently, new treatments for acne vulgaris could be developed by dissecting the candidate molecular pathways to identify druggable targets.

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Section: Hidradenitis Suppurativa (Mim 142690)mentioning

confidence: 99%

What does acne genetics teach us about disease pathogenesis?

2019

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“…In conclusion, HHD is a hereditary blistering skin disease characterized by episodic maceration and erosions mainly in intertriginous areas. Because the ATP2C1 gene was identified as the pathogenic gene of HHD, more than 150 mutations in the ATP2C1 gene have been reported, including nonsense, missense, frame‐shift and splice‐site mutations …”

Section: Discussionmentioning

confidence: 99%

“…NC_000003.11), all 28 exons of the ATP2C1 gene and their flanking intron sequences were amplified by polymerase chain reaction (PCR) using 27 pairs of primers designed by Primer Premier version 5 (PREMIER Biosoft International, Palo Alta, CA, USA). PCR was performed as previously described . After the amplification, the products were purified using a QIA Quick PCR Purification Kit (Qiagen, Hilden, Germany) and sequenced using an ABI PRISM ® 3730 automated sequencer (Applied Biosystems, Foster City, CA, USA).…”

Section: Case Reportmentioning

confidence: 99%

“…PCR was performed as previously described. 7 After the amplification, the products were purified using a QIA Quick PCR Purification Kit (Qiagen, Hilden, Germany) and sequenced using an ABI PRISM â 3730 automated sequencer (Applied Biosystems, Foster City, CA, USA). Sequence comparisons and analyses were performed using the Basic BLAST program (http:// blast.ncbi.nlm.nih.gov/Blast.cgi).…”

Section: Mutation Screeningmentioning

confidence: 99%

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Four novel ATP2C1 mutations in Chinese patients with Hailey–Hailey disease

Chen

Mei

et al. 2016

The Journal of Dermatology

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Hailey-Hailey disease (HHD) is a kind of autosomal dominant dermatosis. The ATP2C1 gene has been identified as the pathogenic gene of HHD since 2000. In this study, direct DNA sequencing was used to identify ATP2C1 gene mutations in four Chinese families and two sporadic cases with HHD. The entire coding and flanking intronic sequences of ATP2C1 were screened for mutations and five heterozygous mutations of the ATP2C1 gene were detected in the four pedigrees and two sporadic cases with HHD. Four of them were novel, including three frame-shift mutations (c.1330delC, c.888_889insT, c.478_479insA) and one nonsense mutation (c.1720C>T). These data added new variants to the database of ATP2C1 mutations associated with HHD.

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“…66 Mutations have since been reported in two British, six Chinese, one Japanese and three French multiplex kindreds, as well as four apparently sporadic cases. [68][69][70][71][72][73][74] To date, eighteen mutations have been reported in NCSTN, three in PSE-NEN and one in PSEN1, 67,[70][71][72][73]75 of which four are nonsense mutations, seven result in frameshifts, seven result in altered splicing and four are missense mutations.…”

Section: Geneticsmentioning

confidence: 99%

Acne and hidradenitis suppurativa

2018

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Acne and hidradenitis suppurativa (HS) both centre on hair follicles. They often occur together as part of the acne tetrad, but are found in distinct localizations. Acne is primarily defined by the presence of comedones and inflammatory lesions. However, in HS the intertriginous localization and chronicity play equally important roles for the diagnosis to the inflammatory lesions. Genetics, bacteria, environmental factors and innate inflammation have all been found to play a role in acne and/or HS. Surprisingly, there is little overlap between the findings so far. The genetics of acne and HS are distinct, bacteria have not been shown convincingly to play a role in HS, and the important risk factors obesity and smoking in HS cannot be easily translated to acne. The one driving factor central to both diseases is innate inflammation, most strikingly involving interleukin-1. Hence the interleukin-1 family, as already shown in autoinflammatory conditions associated with acne, could represent attractive treatment targets.

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Two novel mutations of the NCSTN gene in Chinese familial acne inverse

Abstract: We have identified two novel mutations within the NCSTN gene associated with AI.

Cited by 37 publications

References 17 publications

What does acne genetics teach us about disease pathogenesis?

What does acne genetics teach us about disease pathogenesis?

Four novel ATP2C1 mutations in Chinese patients with Hailey–Hailey disease

Acne and hidradenitis suppurativa

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