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A novel mutation in the 12(R)-lipoxygenase (ALOX12B) gene underlies nonbullous congenital ichthyosiform erythroderma.

作者信息

Ashoor G, Massé M, García Luciano L M, Sheffer R, Martinez-Mir A, Christiano A M, Zlotogorski A

机构信息

Genetic Skin Disease Group, St John's Institute of Dermatology, The Guy's, King's College and St Thomas' Hospital Medical School, London, UK.

出版信息

Br J Dermatol. 2006 Jul;155(1):198-200. doi: 10.1111/j.1365-2133.2006.07188.x.

DOI:10.1111/j.1365-2133.2006.07188.x
PMID:16792775
Abstract
摘要

相似文献

1
A novel mutation in the 12(R)-lipoxygenase (ALOX12B) gene underlies nonbullous congenital ichthyosiform erythroderma.
Br J Dermatol. 2006 Jul;155(1):198-200. doi: 10.1111/j.1365-2133.2006.07188.x.
2
Partially disturbed lamellar granule secretion in mild congenital ichthyosiform erythroderma with ALOX12B mutations.轻度先天性鱼鳞样红皮病伴 ALOX12B 突变患者的板层颗粒部分分泌障碍。
Br J Dermatol. 2010 Jul;163(1):201-4. doi: 10.1111/j.1365-2133.2010.09745.x. Epub 2010 Mar 5.
3
Mutation spectrum and functional analysis of epidermis-type lipoxygenases in patients with autosomal recessive congenital ichthyosis.常染色体隐性遗传性先天性鱼鳞病患者表皮型脂氧合酶的突变谱及功能分析
Hum Mutat. 2005 Oct;26(4):351-61. doi: 10.1002/humu.20236.
4
Hepoxilin A3 (HXA3) synthase deficiency is causative of a novel ichthyosis form.肝氧素A3（HXA3）合酶缺乏是一种新型鱼鳞病的病因。
FEBS Lett. 2008 Jan 23;582(2):279-85. doi: 10.1016/j.febslet.2007.12.017. Epub 2007 Dec 18.
5
Self-healing collodion membrane and mild nonbullous congenital ichthyosiform erythroderma due to 2 novel mutations in the ALOX12B gene.由于ALOX12B基因的2种新突变导致的自愈性火棉胶膜和轻度非大疱性先天性鱼鳞病样红皮病。
Arch Dermatol. 2008 Mar;144(3):351-6. doi: 10.1001/archderm.144.3.351.
6
A mouse mutation in the 12R-lipoxygenase, Alox12b, disrupts formation of the epidermal permeability barrier.12R-脂氧合酶Alox12b中的小鼠突变会破坏表皮渗透屏障的形成。
J Invest Dermatol. 2007 Aug;127(8):1893-7. doi: 10.1038/sj.jid.5700825. Epub 2007 Apr 12.
7
A severe collodion phenotype in the newborn period associated with a homozygous missense mutation in ALOX12B.新生儿期严重的火棉胶样表型与ALOX12B基因的纯合错义突变相关。
Br J Dermatol. 2015 Jul;173(1):285-7. doi: 10.1111/bjd.13627. Epub 2015 May 18.
8
Novel homozygous missense mutation c.1654G>T in the ALOX12B gene causing congenital ichthyosiform erythroderma.ALOX12B基因中导致先天性鱼鳞病样红皮病的新型纯合错义突变c.1654G>T
J Dermatol. 2023 Jan;50(1):e37-e38. doi: 10.1111/1346-8138.16601. Epub 2022 Oct 18.
9
Lipoxygenase-3 (ALOXE3) and 12(R)-lipoxygenase (ALOX12B) are mutated in non-bullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome 17p13.1.脂氧合酶-3（ALOXE3）和12（R）-脂氧合酶（ALOX12B）在与17号染色体p13.1相关的非大疱性先天性鱼鳞病样红皮病（NCIE）中发生突变。
Hum Mol Genet. 2002 Jan 1;11(1):107-13. doi: 10.1093/hmg/11.1.107.
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Molecular genetics as a diagnostic and prognostic aid in the assessment of neonates with red, scaly genodermatoses: work still in progress.分子遗传学在评估患有红色鳞屑性遗传性皮肤病的新生儿时作为诊断和预后辅助手段：仍在进行中的工作。
Arch Dermatol. 2008 Mar;144(3):387-8. doi: 10.1001/archderm.144.3.387.

引用本文的文献

1
Identification of the first congenital ichthyosis case caused by a homozygous deletion in the gene due to chromosome 17 mixed uniparental disomy.因17号染色体单亲二体导致该基因纯合缺失引起的首例先天性鱼鳞病病例的鉴定。
Front Genet. 2022 Aug 8;13:931833. doi: 10.3389/fgene.2022.931833. eCollection 2022.