X连锁少汗性外胚层发育不良1家系EDA基因检测

doi:10.35541/cjd.20210486

Chinese Journal of Dermatology ›› 2024, Vol. 57 ›› Issue (2): 169-170.doi: 10.35541/cjd.20210486

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Mutation analysis of the EDA gene in a family with X-linked hypohidrotic ectodermal dysplasia

Tan Lihua, Shruti Kayastha, Sun Yi, Zeng Tonxiang

Department of Dermatology and Venereology, Jingzhou Hospital, Yangtze University, Jingzhou 434020, Hubei, China

Received:2021-07-01 Revised:2022-01-18 Online:2024-02-15 Published:2024-02-01
Contact: Sun Yi E-mail:jzzxyysy@163.com
Supported by:
Hubei Province Health and Family Planning Scientific Research Project （WJ2021M261）

Abstract

Tan Lihua, Shruti Kayastha, Sun Yi, Zeng Tonxiang . Mutation analysis of the EDA gene in a family with X-linked hypohidrotic ectodermal dysplasia[J]. Chinese Journal of Dermatology, 2024, 57(2): 169-170.doi:10.35541/cjd.20210486

References ［8］

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［2］	张安平, 张学军, 朱文元. X连锁无汗性外胚叶发育不良家系的基因突变检测［J］. 中华皮肤科杂志, 2002,35（5）:380⁃382. doi: 10.3760/j.issn:0412⁃4030.2002.05.018.
［3］	Karlskov⁃Mortensen P, Cirera S, Nielsen OL, et al. Exonization of a LINE1 fragment implicated in X⁃linked hypohidrotic ectodermal dysplasia in cattle［J］. Anim Genet, 2011,42（6）:578⁃584. doi: 10.1111/j.1365⁃2052.2011.02192.x.
［4］	Priolo M, Laganà C. Ectodermal dysplasias: a new clinical⁃genetic classification［J］. J Med Genet, 2001,38（9）:579⁃585. doi: 10.1136/jmg.38.9.579.
［5］	Hashiguchi T, Yotsumoto S, Kanzaki T. Mutations in the ED1 gene in Japanese families with X⁃linked hypohidrotic ectodermal dysplasia［J］. Exp Dermatol, 2003,12（4）:518⁃522. doi: 10.1034/j.1600⁃0625.2002.120423.x.
［6］	Headon DJ, Emmal SA, Ferguson BM, et al. Gene defect in ectodermal dysplasia implicates a death domain adapter in development［J］. Nature, 2001,414（6866）:913⁃916. doi: 10.1038/ 414913a.
［7］	Ezer S, Bayés M, Elomaa O, et al. Ectodysplasin is a collagenous trimeric type II membrane protein with a tumor necrosis factor⁃like domain and co⁃localizes with cytoskeletal structures at lateral and apical surfaces of cells［J］. Hum Mol Genet, 1999,8（11）:2079⁃2086. doi: 10.1093/hmg/8.11.2079.
［8］	金玉霞, 李素萍, 李晶, 等. X⁃连锁少汗型外胚层发育不良家系的基因突变分析及产前诊断［J］. 中国全科医学, 2021,24（6）:740⁃743. doi: 10.12114/j.issn.1007⁃9572.2020.00.606.

Mutation analysis of the EDA gene in a family with X-linked hypohidrotic ectodermal dysplasia

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