[开放获取]   Kindler综合征2家系FERMT1基因新突变

doi:10.35541/cjd.20220666

中华皮肤科杂志 ›› 2023, e20220666.doi: 10.35541/cjd.20220666

[开放获取] Kindler综合征2家系FERMT1基因新突变

余茜¹ 李伟生¹ 鲁礼魁¹ 杨剑秋^2，3 林志淼⁴ 孙淼¹ 李敏^2，3

¹苏州大学附属第一医院胎儿医学研究所，苏州 215006；²苏州大学附属第一医院皮肤科，苏州 215006；³苏州大学附属独墅湖医院皮肤科，苏州 215100；⁴北京大学第一医院皮肤科，北京 100034

收稿日期:2022-09-19 修回日期:2023-05-29 发布日期:2023-09-04
通讯作者: 李敏 E-mail:lm@suda.cdu.cn
基金资助:
国家自然科学基金（81570960）；江苏省苏州市科技计划项目（SZM2021007）；江苏省妇幼健康重点学科项目（FXK201746）

Novel pathogenic variants in the FERMT1 gene in 2 families featuring Kindler syndrome

Yu Xi¹, Li Weisheng¹, Lu Likui¹, Yang Jianqiu^2,3, Lin Zhimiao⁴, Sun Miao¹, Li Min^2,3

¹Institute for Fetology, The First Affiliated Hospital of Soochow University, Suzhou 215006, Jiangsu, China; ²Department of Dermatology, The First Affiliated Hospital of Soochow University, Suzhou 215006, Jiangsu, China; ³Department of Dermatology, Dushu Lake Hospital Affiliated to Soochow University, Suzhou 215100, Jiangsu, China; ⁴Department of Dermatology, Peking University First Hospital, Beijing 100034, China

Received:2022-09-19 Revised:2023-05-29 Published:2023-09-04
Contact: Li Min E-mail:lm@suda.cdu.cn
Supported by:
National Natural Science Foundation of China （81570960）; Suzhou Science and Technology Programme of Jiangsu Province （SZM2021007）; Key Discipline Project of Maternal and Child Health of Jiangsu Province （FXK201746）

摘要/Abstract

摘要： 家系1 先证者女，11岁，2014年8月因皮肤反复多发水疱就诊于北京大学第一医院。患儿出生时皮肤完整，10月龄起四肢反复出现水疱，皮损愈合后可见结痂及萎缩性瘢痕；5 ~ 6岁时颈部皮肤开始出现异色表现；口腔及嘴角反复溃疡，刷牙时易出血……

余茜李伟生鲁礼魁杨剑秋林志淼孙淼李敏. [开放获取] Kindler综合征2家系FERMT1基因新突变[J]. 中华皮肤科杂志, 2023,e20220666. doi:10.35541/cjd.20220666

Yu Xi, Li Weisheng, Lu Likui, Yang Jianqiu, Lin Zhimiao, Sun Miao, Li Min, . Novel pathogenic variants in the FERMT1 gene in 2 families featuring Kindler syndrome[J]. Chinese Journal of Dermatology,2023,e20220666. doi:10.35541/cjd.20220666

参考文献 9

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［4］	Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology［J］. Genet Med, 2015,17（5）:405⁃424. doi: 10.1038/gim.2015.30.
［5］	Oh SJ, Kim SE, Lee SE, et al. Homozygous Deletion Mutation of the FERMT1 Gene in a Chinese Patient with Kindler Syndrome［J］. Ann Dermatol, 2016,28（4）:503⁃505. doi: 10.5021/ad.2016.28.4.503.
［6］	Zheng BW, Zhu XZ, Lan Y, et al. Unique variants in the FLG gene and FERMT1 gene in a Chinese patient with ichthyosis and Kindler syndrome［J］. JAAD Case Rep, 2019,5（12）:1061⁃1064. doi: 10.1016/j.jdcr.2019.09.023.
［7］	Meng L, Yang X, Wu Y, et al. A novel frameshift mutation in the FERMT1 gene in a Chinese patient with Kindler syndrome［J］. Exp Ther Med, 2020,20（5）:103. doi: 10.3892/etm.2020.9233.
［8］	Gao Y, Bai JL, Liu XY, et al. A novel large deletion mutation of FERMT1 gene in a Chinese patient with Kindler syndrome［J］. J Zhejiang Univ Sci B, 2015,16（11）:957⁃962. doi: 10.1631/jzus.B1500080.
［9］	Zhou C, Song S, Zhang J. A novel 3017⁃bp deletion mutation in the FERMT1 （KIND1） gene in a Chinese family with Kindler syndrome［J］. Br J Dermatol, 2009,160 （5）:1119⁃1122. doi: 10.1111/j.1365⁃2133.2009.09052.x.

[开放获取] Kindler综合征2家系FERMT1基因新突变

Novel pathogenic variants in the FERMT1 gene in 2 families featuring Kindler syndrome

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