TGM1基因变异致先天性板层状鱼鳞病1例

doi:10.35541/cjd.20230456

中华皮肤科杂志 ›› 2024, e20230456.doi: 10.35541/cjd.20230456

TGM1基因变异致先天性板层状鱼鳞病1例

刘瑜¹ 张丽亚¹ 解敏² 李海波² 陈黎丽¹

¹宁波大学附属妇女儿童医院新生儿中心，宁波315012；²宁波大学附属妇女儿童医院出生缺陷中心，宁波 315012
刘瑜和张丽亚对本文有同等贡献

收稿日期:2023-08-08 修回日期:2024-07-10 发布日期:2024-11-20
通讯作者: 陈黎丽 E-mail:chenll202303@163.com
基金资助:
浙江省医药卫生科技计划项目（2021KY324、2022KY1157）；宁波市科技计划项目（2019A21002）；第四轮宁波市医学重点学科建设计划项目（2022-B17）

A case of congenital lamellar ichthyosis caused by TGM1 gene mutations

Liu Yu¹, Zhang Liya¹, Xie Min², Li Haibo², Chen Lili¹

¹Neonatal Center, Women and Children's Hospital Affiliated to Ningbo University, Ningbo 315012, Zhejiang, China; ²Birth Defect Center, Women and Children's Hospital Affiliated to Ningbo University, Ningbo 315012, Zhejiang, China
Liu Yu and Zhang Liya contributed equally to the article

Received:2023-08-08 Revised:2024-07-10 Published:2024-11-20
Contact: Chen Lili E-mail:chenll202303@163.com
Supported by:
Zhejiang Provincial Medical and Health Science and Technology Planning Project （2021KY324, 2022KY1157）; Ningbo Science and Technology Plann Project （2019A21002）; The Fourth Round of Ningbo Key Medical Discipline Construction Plan Project （2022-B17）

摘要/Abstract

摘要： 患儿男，出生后因皮肤异常伴气促27 min于2022年9月5日入院。患儿系第2胎第2产，胎龄39周，自然分娩，出生体重3 050 g，无窒息，羊水血性，脐带水肿，胎盘早剥，无胎膜早破……

刘瑜张丽亚解敏李海波陈黎丽. TGM1基因变异致先天性板层状鱼鳞病1例[J]. 中华皮肤科杂志, 2024,e20230456. doi:10.35541/cjd.20230456

Liu Yu, Zhang Liya, Xie Min, Li Haibo, Chen Lili. A case of congenital lamellar ichthyosis caused by TGM1 gene mutations[J]. Chinese Journal of Dermatology,2024,e20230456. doi:10.35541/cjd.20230456

参考文献 6

［1］	Huang X, Chen Z, Yang Y. Homozygous nonsense mutation in SDR9C7 in a Chinese patient with autosomal recessive congenital ichthyosis［J］. Int J Derm Vene, 2023,6（1）:52 ⁃ 54. doi: 10.1097/JD9. 0000000000000236.
［2］	Akiyama M. ABCA12 mutations and autosomal recessive congenital ichthyosis: a review of genotype/phenotype correlations and of pathogenetic concepts［J］. Hum Mutat, 2010,31（10）:1090⁃1096. doi: 10.1002/humu.21326.
［3］	Herman ML, Farasat S, Steinbach PJ, et al. Transglutaminase⁃1 gene mutations in autosomal recessive congenital ichthyosis: summary of mutations （including 23 novel） and modeling of TGase⁃1［J］. Hum Mutat, 2009,30（4）:537⁃547. doi: 10.1002/humu.20952.
［4］	刘舒, 王继成, 曾玉坤, 等. 板层状鱼鳞病TGM1基因突变的研究［J］. 中华全科医学, 2014,12（6）:1007⁃1008,封3. doi：10. 16766/j.cnki.issn.1674⁃4152.2014.06.065.
［5］	Takeda M, Nomura T, Sugiyama T, et al. Compound heterozygous missense mutations p.Leu207Pro and p.Tyr544Cys in TGM1 cause a severe form of lamellar ichthyosis［J］. J Dermatol, 2018,45（12）:1463⁃1467. doi: 10.1111/1346⁃8138.14675.
［6］	Dang L, Zhou X, Zhong X, et al. Correction of the pathogenic mutation in TGM1 gene by adenine base editing in mutant embryos［J］. Mol Ther, 2022,30（1）:175⁃183. doi: 10.1016/j.ymthe.2021.05.007.

TGM1基因变异致先天性板层状鱼鳞病1例

A case of congenital lamellar ichthyosis caused by TGM1 gene mutations

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