先天性常染色体隐性遗传性鱼鳞病  

Autosomal recessive lamellar ichthyosis

作　　者：郝静梅[1] 曾兰[2] 夏利[1] 王锦 罗泽民[3] 石境懿 李晓静 张衡[1] 陈艾 朱书瑶 秦胜芳[2] HAO Jingmei;ZENG Lan;XIA Li;WANG Jin;LUO Zemin;SHI Jingyi;LI Xiaojing;ZHANG Heng;CHEN Ai;ZHU Shuyao;QIN Shengfang(Department of Neonatal,Sichuan Provincial Maternity and Child Health Care Hospital,Chengdu610031,China;Department of Medical Genetics and Prenatal Diagnosis,Sichuan Provincial Maternity and Child Health Care Hospital,Chengdu610031,China;Department of Pediatrics,Sichuan Provincial Maternity and Child Health Care Hospital,Chengdu610031,China;Department of Dermatology,Sichuan Provincial Maternity and Child Health Care Hospital,Chengdu610031,China)

机构地区：[1]四川省妇幼保健院新生儿科,四川成都610031 [2]四川省妇幼保健院医学遗传与产前诊断科,四川成都610031 [3]四川省妇幼保健院儿科,四川成都610031 [4]四川省妇幼保健院皮肤科,四川成都610031

出　　处：《临床皮肤科杂志》2024年第6期343-346,共4页Journal of Clinical Dermatology

基　　金：成都市科研技术局技术创新研发项目(2021-YF05-01658-SN);四川省妇幼保健院科技创新基金项目(20240105)。

摘　　要：目的:分析1例TGM1基因变异引起的先天性常染色体隐性遗传性鱼鳞病(ARCI)临床表现和基因型。方法:对患儿进行TGM1基因测序。应用Sanger测序法对可疑致病位点进行家系验证。结果:羊水检测示TGM1基因c.968G>A和c.871G>A复合杂合变异,分别遗传自无表型的父亲及母亲。患儿出生时皮肤潮红呈火棉胶样改变,经保湿和润肤等治疗皮损改善。结论:TGM1基因c.968G>A和c.871G>A复合杂合变异可能是患儿的致病原因。Objective:This case study delves into autosomal recessive lamellar ichthyosis(ARCI)caused by variations in the TGM1 gene,exploring both the clinical manifestations and genotype.Methods:The patient underwent sequencing of the TGM1 gene,and the suspected pathogenic sites were confirmed through Sanger sequencing.Results:The amniotic fluid analysis identified compound heterozygous variants in the TGM1 gene,specifically c.968G>A and c.871G>A,inherited from the father and mother,respectively.Following birth,the child exhibited skin abnormalities with parchment-like changes that significantly improved with moisturizing therapy.Conclusion:The complex heterozygous variation of TGM1 gene involving c.968G>A and c.871G>A,likely pathogenic the development of ichthyosis.

关 键 词：TGM1基因 先天性常染色体隐性遗传性鱼鳞病 基因变异 

分 类 号：R758.5[医药卫生—皮肤病学与性病学]