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Compound Heterozygous Mutations with a Novel Variant in Integrin Beta4 Cause Epidermolysis Bullosa with Pyloric Atresia and Urologic Abnormalities.

作者信息

Yoo Dae San, Lee Seung Ju, Kim Song Ee, Kim Soo Chan, Lee Sang Eun

机构信息

Department of Dermatology and Cutaneous Biology Research Institute, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, Korea.

Department of Dermatology, Yongin Severance Hospital, Yonsei University College of Medicine, Yongin, Korea.

出版信息

Yonsei Med J. 2020 Sep;61(9):831-833. doi: 10.3349/ymj.2020.61.9.831.

DOI:10.3349/ymj.2020.61.9.831
PMID:32882768
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7471079/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5135/7471079/3dce0e7c88ea/ymj-61-831-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5135/7471079/3dce0e7c88ea/ymj-61-831-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5135/7471079/3dce0e7c88ea/ymj-61-831-g001.jpg

相似文献

1
Compound Heterozygous Mutations with a Novel Variant in Integrin Beta4 Cause Epidermolysis Bullosa with Pyloric Atresia and Urologic Abnormalities.整合素β4中具有新变异的复合杂合突变导致伴有幽门闭锁和泌尿系统异常的大疱性表皮松解症。
Yonsei Med J. 2020 Sep;61(9):831-833. doi: 10.3349/ymj.2020.61.9.831.
2
Novel and recurrent mutations in the integrin beta 4 subunit gene causing lethal junctional epidermolysis bullosa with pyloric atresia.
Exp Dermatol. 2003 Oct;12(5):716-20. doi: 10.1034/j.1600-0625.2003.00052.x.
3
Lethal junctional epidermolysis bullosa with pyloric atresia due to compound heterozygosity for two novel mutations in the integrin β4 gene.由于整合素β4基因两个新突变的复合杂合性导致的伴有幽门闭锁的致死性交界性大疱性表皮松解症。
Klin Padiatr. 2012 Jan;224(1):8-11. doi: 10.1055/s-0031-1285877. Epub 2011 Sep 26.
4
Rapid decay of alpha6 integrin caused by a mis-sense mutation in the propeller domain results in severe junctional epidermolysis bullosa with pyloric atresia.螺旋桨结构域中的错义突变导致α6整合素快速降解，从而引发伴有幽门闭锁的严重交界性大疱性表皮松解症。
J Invest Dermatol. 2003 Dec;121(6):1336-43. doi: 10.1111/j.1523-1747.2003.12625.x.
5
Epidermolysis Bullosa with Pyloric Atresia and Aplasia Cutis in a Newborn Due to Homozygous Mutation in ITGB4.因ITGB4纯合突变导致的新生儿大疱性表皮松解症伴幽门闭锁和皮肤发育不全
Fetal Pediatr Pathol. 2017 Aug;36(4):332-339. doi: 10.1080/15513815.2017.1324545. Epub 2017 May 30.
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Novel ITGB4 mutations in a patient with junctional epidermolysis bullosa-pyloric atresia syndrome and altered basement membrane zone immunofluorescence for the alpha6beta4 integrin.一名患有交界型大疱性表皮松解症-幽门闭锁综合征的患者出现新型ITGB4突变，且α6β4整合素的基底膜区免疫荧光发生改变。
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Differential expression of pyloric atresia in junctional epidermolysis bullosa with ITGB4 mutations suggests that pyloric atresia is due to factors other than the mutations and not predictive of a poor outcome: three novel mutations and a review of the literature.伴有整合素β4（ITGB4）突变的交界型大疱性表皮松解症中幽门闭锁的差异表达表明，幽门闭锁是由突变以外的因素引起的，且不能预测不良预后：三个新突变及文献综述
Acta Derm Venereol. 2008;88(5):438-48. doi: 10.2340/00015555-0484.
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Epidermolysis bullosa with pyloric atresia: novel mutations in the beta4 integrin gene (ITGB4).伴有幽门闭锁的大疱性表皮松解症：β4整合素基因（ITGB4）中的新突变
Am J Pathol. 1998 Jan;152(1):157-66.
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Absence of detectable alpha 6 integrin in pyloric atresia-junctional epidermolysis bullosa syndrome. Application for prenatal diagnosis in a family at risk for recurrence.幽门闭锁-交界性大疱性表皮松解症中未检测到α6整合素。在有复发风险的家庭中进行产前诊断的应用。
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10
Compound heterozygosity for missense (L156P) and nonsense (R554X) mutations in the beta4 integrin gene (ITGB4) underlies mild, nonlethal phenotype of epidermolysis bullosa with pyloric atresia.β4整合素基因（ITGB4）中错义突变（L156P）和无义突变（R554X）的复合杂合性是伴有幽门闭锁的大疱性表皮松解症轻度非致死表型的基础。
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本文引用的文献

1
Epidermolysis bullosa with pyloric atresia consistently demonstrates concurrent low intra-basal epidermal and lamina lucida cleavage planes: a survey of six cases.伴有幽门闭锁的大疱性表皮松解症始终显示出基底层内表皮和透明层同时出现分裂平面：六例病例调查
J Eur Acad Dermatol Venereol. 2020 Apr;34(4):e200-e203. doi: 10.1111/jdv.16153. Epub 2020 Jan 22.
2
Mild phenotype of junctional epidermolysis bullosa with pyloric atresia due to a novel mutation of the ITGB4 gene.
J Dermatol. 2018 Jul;45(7):e203-e204. doi: 10.1111/1346-8138.14236. Epub 2018 Jan 30.
3
Epidermolysis bullosa with pyloric atresia.大疱性表皮松解症合并幽门闭锁。
Dermatol Clin. 2010 Jan;28(1):43-54. doi: 10.1016/j.det.2009.10.005.
4
Differential expression of pyloric atresia in junctional epidermolysis bullosa with ITGB4 mutations suggests that pyloric atresia is due to factors other than the mutations and not predictive of a poor outcome: three novel mutations and a review of the literature.伴有整合素β4（ITGB4）突变的交界型大疱性表皮松解症中幽门闭锁的差异表达表明，幽门闭锁是由突变以外的因素引起的，且不能预测不良预后：三个新突变及文献综述
Acta Derm Venereol. 2008;88(5):438-48. doi: 10.2340/00015555-0484.
5
Epidermolysis bullosa simplex associated with pyloric atresia is a novel clinical subtype caused by mutations in the plectin gene (PLEC1).与幽门闭锁相关的单纯性大疱性表皮松解症是一种由斑珠蛋白基因（PLEC1）突变引起的新型临床亚型。
J Mol Diagn. 2005 Feb;7(1):28-35. doi: 10.1016/S1525-1578(10)60005-0.
6
Pyloric atresia-junctional epidermolysis bullosa syndrome showing novel 594insC/Q425P mutations in integrin beta4 gene (ITGB4).幽门闭锁-交界性大疱性表皮松解症综合征，显示整合素β4基因（ITGB4）存在新的594insC/Q425P突变。
Exp Dermatol. 2004 Jan;13(1):61-4. doi: 10.1111/j.0906-6705.2004.00107.x.
7
Identification of a lethal form of epidermolysis bullosa simplex associated with a homozygous genetic mutation in plectin.与网蛋白纯合基因突变相关的单纯性大疱性表皮松解症致死型的鉴定
J Invest Dermatol. 2003 Dec;121(6):1344-8. doi: 10.1111/j.1523-1747.2003.12639.x.
8
Role of binding of plectin to the integrin beta4 subunit in the assembly of hemidesmosomes.桥粒斑蛋白与整合素β4亚基结合在半桥粒组装中的作用
Mol Biol Cell. 2004 Mar;15(3):1211-23. doi: 10.1091/mbc.e03-09-0697. Epub 2003 Dec 10.
9
Deletion of a cytoplasmic domain of integrin beta4 causes epidermolysis bullosa simplex.整合素β4胞质结构域的缺失导致单纯性大疱性表皮松解症。
J Invest Dermatol. 2002 Dec;119(6):1275-81. doi: 10.1046/j.1523-1747.2002.19609.x.
10
Epidermolysis bullosa simplex (Dowling-Meara type) associated with pyloric atresia and congenital urologic abnormalities.
Yonsei Med J. 2000 Jun;41(3):411-5. doi: 10.3349/ymj.2000.41.3.411.