Identification of a Novel Pathogenic Missense Mutation in the Fibronectin type III Domain of ITGB4 Gene in Epidermolysis Bullosa with Pyloric Atresia. Epidermolysis bullosa-Pyloric Atresia

The severity of manifestation of Epidermolysis bullosa(EB) ranges from mild to fatal, of which Epidermolysis bullosa-Pyloric Atresia(EB-PA) is of a severe kind. Using Exome sequencing and subsequent Bioinformatic analysis, from a family, we identified a ‘novel’, missense mutation in the Fibronactin type III domain of ITGB4 gene which in the recessive mode is severely pathogenic to two siblings, but do not show clinical symptoms in the heterozygous parents.

大疱性表皮松解症（Epidermolysis bullosa, EB）的临床表现严重程度差异显著，从轻症表现直至致命性结局不等，其中大疱性表皮松解症-幽门闭锁症（Epidermolysis bullosa-Pyloric Atresia, EB-PA）属于该疾病的重症亚型。本研究通过外显子测序及后续生物信息学分析，从一个受累家系中鉴定出ITGB4基因纤连蛋白III型结构域内一处‘新型’错义突变；该突变以隐性遗传模式对两名同胞患儿具有严重致病性，但在携带该突变的杂合子父母中未表现出任何临床症状。