Riahi Kourosh, Ghanbari Mardasi Farideh, Talebi Farah, Jasemi Farzad, Mohammadi Asl Javad
Department of Pediatrics, Faculty of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.
Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran. Email:
Cell J. 2021 Oct;23(5):598-602. doi: 10.22074/cellj.2021.7208. Epub 2021 Oct 30.
In this study, we describe one Iranian patient who was diagnosed with Epidermolysis Bullosa (EB) because of mutations in three candidate genes, including 3 mutations. Two missense mutations in the (D3134H) and (Y339H) genes and also, a synonymous mutation in the (H422H) gene were identified that leads to the Junctional-EBHerlitz (JEB-Herlitz) clinical phenotype. The patient had a heterozygous mutation combined with a heterozygous mutation in . Our results propose that these mutations produce novel protein-coding transcripts which explain the JEB-Herlitz phenotype in the patient. Interestingly, this is the first report indicating that a digenic inheritance in the and which is responsible for JEB-Herlitz. Also, this is the first digenic inheritance recognized in the JEB-Herlitz family. This study provides a new way to clarify the molecular mechanisms of and genes in JEB-Herlitz.
在本研究中，我们描述了一名伊朗患者，该患者因三个候选基因发生突变（包括3个突变）而被诊断为大疱性表皮松解症（EB）。在（D3134H）和（Y339H）基因中发现了两个错义突变，同时在（H422H）基因中发现了一个同义突变，这些突变导致了交界型EB赫利茨（JEB-Herlitz）临床表型。该患者存在杂合的突变，并与中的杂合突变同时出现。我们的结果表明，这些突变产生了新的蛋白质编码转录本，这解释了该患者的JEB-Herlitz表型。有趣的是，这是第一份表明和中双基因遗传导致JEB-Herlitz的报告。此外，这是在JEB-Herlitz家族中首次识别出的双基因遗传。本研究为阐明和基因在JEB-Herlitz中的分子机制提供了新途径。
