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Whole Genome Linkage Analysis Followed by Whole Exome Sequencing Identifies Nicastrin (NCSTN) as a Causative Gene in a Multiplex Family with γ-Secretase Spectrum of Autoinflammatory Skin Phenotypes.

作者信息

Faraji Zonooz Mehrshid, Sabbagh-Kermani Farahnaz, Fattahi Zohreh, Fadaee Mahsa, Akbari Mohammad Reza, Amiri Rezvan, Vahidnezhad Hassan, Uitto Jouni, Najmabadi Hossein, Kariminejad Ariana

机构信息

Kariminejad-Najmabadi Pathology and Genetics Center, Tehran, Iran.

Clinical Research Unit, Afzalipoor Hospital, Kerman University of Medical Sciences, Kerman, Iran.

出版信息

J Invest Dermatol. 2016 Jun;136(6):1283-1286. doi: 10.1016/j.jid.2016.02.801. Epub 2016 Mar 9.

DOI:10.1016/j.jid.2016.02.801
PMID:26968259
Abstract
摘要

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Whole Genome Linkage Analysis Followed by Whole Exome Sequencing Identifies Nicastrin (NCSTN) as a Causative Gene in a Multiplex Family with γ-Secretase Spectrum of Autoinflammatory Skin Phenotypes.全基因组连锁分析继之以全外显子组测序，在一个具有γ-分泌酶谱自身炎症性皮肤表型的多重家庭中确定尼卡斯特林（NCSTN）为致病基因。
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Confirmation by exome sequencing of the pathogenic role of NCSTN mutations in acne inversa (hidradenitis suppurativa).外显子组测序证实NCSTN突变在反向性痤疮（化脓性汗腺炎）中的致病作用。
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Nicastrin mutations in familial acne inversa impact keratinocyte proliferation and differentiation through the Notch and phosphoinositide 3-kinase/AKT signalling pathways.家族性化脓性汗腺炎中尼卡斯特林突变通过 Notch 和磷酸肌醇 3-激酶/AKT 信号通路影响角质形成细胞增殖和分化。
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引用本文的文献

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Int J Mol Sci. 2024 Sep 26;25(19):10374. doi: 10.3390/ijms251910374.
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Genetic factors associated with hidradenitis suppurativa, a literature review.与化脓性汗腺炎相关的遗传因素：文献综述
Int J Womens Dermatol. 2024 Jun 14;10(2):e158. doi: 10.1097/JW9.0000000000000158. eCollection 2024 Jun.
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An Updated Mutation Spectrum of the γ-Secretase Complex: Novel NCSTN Gene Mutation in an Indian Family with Hidradenitis Suppurativa and Acne Conglobata.
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Indian J Dermatol. 2023 Mar-Apr;68(2):141-147. doi: 10.4103/ijd.ijd_995_21.
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Front Genet. 2022 Mar 23;13:861241. doi: 10.3389/fgene.2022.861241. eCollection 2022.
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