ALOX12B基因复合杂合突变致火棉胶婴儿1例

doi:10.35541/cjd.20210614

Chinese Journal of Dermatology ›› 2023, Vol. 56 ›› Issue (12): 1163-1164.doi: 10.35541/cjd.20210614

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A collodion baby caused by compound heterozygous mutations in the ALOX12B gene

Li Yue¹, Zhou Yan²

¹Department of Pediatrics, the First Affiliated Hospital of Nanjing Medical University, Nanjing 210029, China; ²Department of Pediatrics, Shengze Hospital of Jiangsu Province, Suzhou 215228, Jiangsu, China

Received:2021-08-23 Revised:2022-01-06 Online:2023-12-15 Published:2023-12-05
Contact: Zhou Yan E-mail:zhouyan6699@sina.cn

Abstract

Li Yue, Zhou Yan. A collodion baby caused by compound heterozygous mutations in the ALOX12B gene[J]. Chinese Journal of Dermatology, 2023, 56(12): 1163-1164.doi:10.35541/cjd.20210614

References ［8］

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［2］	Hotz A, Kopp J, Bourrat E, et al. Meta⁃analysis of mutations in ALOX12B or ALOXE3 identified in a large cohort of 224 patients［J］. Genes （Basel）, 2021,12（1）. doi: 10.3390/genes12010080.
［3］	Zheng Y, Yin H, Boeglin WE, et al. Lipoxygenases mediate the effect of essential fatty acid in skin barrier formation: a proposed role in releasing omega⁃hydroxyceramide for construction of the corneocyte lipid envelope［J］. J Biol Chem, 2011,286（27）:24046⁃24056. doi: 10.1074/jbc.M111.251496.
［4］	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.
［5］	Kurban M, Shimomura Y, Bahhady R, et al. Nonsense mutation in the ALOX12B gene leads to autosomal recessive congenital ichthyosis in a Lebanese family［J］. J Eur Acad Dermatol Venereol, 2010,24（2）:232⁃234. doi: 10.1111/j.1468⁃3083.2009. 03381.x.
［6］	Simpson JK, Martinez⁃Queipo M, Onoufriadis A, et al. Genotype⁃phenotype correlation in a large English cohort of patients with autosomal recessive ichthyosis［J］. Br J Dermatol, 2020,182（3）:729⁃737. doi: 10.1111/bjd.18211.
［7］	Virolainen E, Wessman M, Hovatta I, et al. Assignment of a novel locus for autosomal recessive congenital ichthyosis to chromosome 19p13.1⁃p13.2［J］. Am J Hum Genet, 2000,66（3）:1132⁃1137. doi: 10.1086/302813.
［8］	Dahlqvist J, Klar J, Hausser I, et al. Congenital ichthyosis: mutations in ichthyin are associated with specific structural abnormalities in the granular layer of epidermis［J］. J Med Genet, 2007,44（10）:615⁃620. doi: 10.1136/jmg.2007.050542.

A collodion baby caused by compound heterozygous mutations in the ALOX12B gene

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