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First successful preimplantation genetic diagnosis of epidermolysis bullosa with pyloric atresia: case study of a novel c.4505-4508insACTC mutation.首例成功进行的伴有幽门闭锁的大疱性表皮松解症胚胎植入前基因诊断：一个新型c.4505-4508insACTC突变的病例研究
J Assist Reprod Genet. 2012 Apr;29(4):347-52. doi: 10.1007/s10815-012-9728-8. Epub 2012 Feb 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
Pyloric atresia-junctional epidermolysis bullosa syndrome showing novel c.4505-4508insACTC mutations in integrin b4 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）中存在新的c.4505-4508insACTC突变。
Turk J Pediatr. 2015 Jul-Aug;57(4):385-387.
4
Novel compound heterozygous ITGB4 mutations underlie lethal junctional epidermolysis bullosa with pyloric atresia and aplasia cutis congenita.新型复合杂合ITGB4突变是致死性交界性大疱性表皮松解症伴先天性皮肤发育不全和幽门闭锁的病因。
J Dermatol. 2022 May;49(5):e154-e156. doi: 10.1111/1346-8138.16290. Epub 2022 Jan 11.
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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.
6
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.
7
Splicing abnormality of integrin β4 gene (ITGB4) due to nucleotide substitutions far from splice site underlies pyloric atresia-junctional epidermolysis bullosa syndrome.由于远离剪接位点的核苷酸替换导致整联蛋白β4基因（ITGB4）剪接异常是幽门闭锁-交界性大疱性表皮松解症综合征的病因。
J Dermatol Sci. 2015 Apr;78(1):61-6. doi: 10.1016/j.jdermsci.2015.01.016. Epub 2015 Feb 7.
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Phenotypic discordance between siblings with junctional epidermolysis bullosa-pyloric atresia.患有交界性大疱性表皮松解症-幽门闭锁的兄弟姐妹之间的表型不一致。
Clin Exp Dermatol. 2020 Aug;45(6):793-795. doi: 10.1111/ced.14223. Epub 2020 May 2.
9
Identification of two rare and novel large deletions in ITGB4 gene causing epidermolysis bullosa with pyloric atresia.鉴定ITGB4基因中两个导致伴有幽门闭锁的大疱性表皮松解症的罕见且新的大片段缺失。
Exp Dermatol. 2016 Apr;25(4):269-74. doi: 10.1111/exd.12938. Epub 2016 Feb 13.
10
Deletion of the first pair of fibronectin type III repeats of the integrin beta-4 gene is associated with epidermolysis bullosa, pyloric atresia and aplasia cutis congenita in the original Carmi syndrome patients.整合素β-4基因第一对III型纤连蛋白重复序列的缺失与最初的卡尔米综合征患者的大疱性表皮松解症、先天性幽门闭锁和先天性皮肤发育不全有关。
Am J Med Genet A. 2008 Apr 15;146A(8):1063-6. doi: 10.1002/ajmg.a.31903.

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1
Preimplantation Genetic Diagnosis for DEB by Detecting a Novel Family-Specific COL7A1 Mutation in Vietnam.通过检测越南一个新的家族特异性COL7A1突变对营养不良性大疱性表皮松解症进行植入前基因诊断。
Appl Clin Genet. 2021 Dec 9;14:467-472. doi: 10.2147/TACG.S344107. eCollection 2021.
2
Preimplantation genetic diagnosis for cystic fibrosis: a case report.囊性纤维化的植入前基因诊断：一例报告。
Einstein (Sao Paulo). 2015 Jan-Mar;13(1):110-3. doi: 10.1590/S1679-45082015RC2738.

本文引用的文献

1
Case of epidermolysis bullosa with pyloric atresia.伴有幽门闭锁的大疱性表皮松解症病例。
Ann Dermatol. 2011 Sep;23 Suppl 1(Suppl 1):S41-4. doi: 10.5021/ad.2011.23.S1.S41. Epub 2011 Sep 30.
2
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.
3
Pregnancy after PGD for recessive dystrophic epidermolysis bullosa inversa: genetics and preimplantation genetics.隐性营养不良性反向大疱性表皮松解症植入前基因诊断后的妊娠：遗传学与植入前遗传学
J Assist Reprod Genet. 2011 Sep;28(9):825-32. doi: 10.1007/s10815-011-9601-1. Epub 2011 Jun 24.
4
ESHRE PGD consortium best practice guidelines for amplification-based PGD.ESHRE PGD 联盟关于基于扩增的 PGD 的最佳实践指南。
Hum Reprod. 2011 Jan;26(1):33-40. doi: 10.1093/humrep/deq231. Epub 2010 Oct 21.
5
A founder effect of c.1938delC in ITGB4 underlies junctional epidermolysis bullosa and its application for prenatal testing.一个 c.1938delC 的 founder 效应导致 ITGB4 突变，从而引发交界型大疱性表皮松解症，并可应用于产前检测。
Exp Dermatol. 2011 Jan;20(1):74-6. doi: 10.1111/j.1600-0625.2010.01177.x. Epub 2010 Oct 18.
6
Development and successful clinical application of preimplantation genetic haplotyping for Herlitz junctional epidermolysis bullosa.遗传性交界型大疱性表皮松解症植入前遗传学单体型分析的开发与临床应用。
Br J Dermatol. 2010 Jun;162(6):1330-6. doi: 10.1111/j.1365-2133.2010.09701.x. Epub 2010 Feb 15.
7
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.
8
Successful application of preimplantation genetic diagnosis for Leigh syndrome.利氏综合征着床前基因诊断的成功应用。
Fertil Steril. 2008 Nov;90(5):2017.e11-3. doi: 10.1016/j.fertnstert.2008.07.023. Epub 2008 Sep 7.
9
Immunofluorescence analysis of villous trophoblasts: a tool for prenatal diagnosis of inherited epidermolysis bullosa with pyloric atresia.绒毛滋养层细胞的免疫荧光分析：一种用于产前诊断遗传性大疱性表皮松解症合并幽门闭锁的工具。
J Invest Dermatol. 2008 Dec;128(12):2815-9. doi: 10.1038/jid.2008.143. Epub 2008 Jun 19.
10
The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB.遗传性大疱性表皮松解症（EB）的分类：第三届EB诊断和分类国际共识会议报告
J Am Acad Dermatol. 2008 Jun;58(6):931-50. doi: 10.1016/j.jaad.2008.02.004. Epub 2008 Apr 18.

First successful preimplantation genetic diagnosis of epidermolysis bullosa with pyloric atresia: case study of a novel c.4505-4508insACTC mutation.

作者信息

Ozge Ayvaz, Safak Hatırnaz, Ebru Hatırnaz, Evrim Unsal, Bilge Sinanoglu Ekin, Leyla Ozer, Kemal Kadı Ali, Volkan Baltacı

机构信息

Department of Medical Biology and Genetics, Istanbul Bilim University School of Medicine, Istanbul, Turkey.

出版信息

J Assist Reprod Genet. 2012 Apr;29(4):347-52. doi: 10.1007/s10815-012-9728-8. Epub 2012 Feb 22.

DOI:10.1007/s10815-012-9728-8
PMID:22354727
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3309986/
Abstract
摘要