Department of Dermatology and Venereology, All India Institute of Medical Sciences, New Delhi-110029, India.
Acta Derm Venereol. 2018 Oct 10;98(9):873-879. doi: 10.2340/00015555-2929.
Recent advances in the field of genomics have seen the successful implementation of whole exome sequencing as a rapid and efficient diagnostic strategy in several genodermatoses. The aim of this study was to explore the potential of molecular studies in dystrophic epidermolysis bullosa (DEB) in India. Whole exome sequencing was performed using genomic DNA from each case of epidermolysis bullosa, followed by massively parallel sequencing. Resulting reads were mapped to the human reference genome hg19. Sanger sequencing subsequently confirmed the potentially pathogenic mutations. Whole exome sequencing of 18 patients with DEB from 17 unrelated Indian families revealed 20 distinct sequence variants in the COL7A1 gene including 2 widely prevalent mutations. Dominant inheritance was seen in 7 patients, while 11 patients showed a highly variable recessive DEB. This preliminary study using exome sequencing is clearly encouraging and will serve as the basis for future large-scale molecular studies to actively identify and understand DEB in the Indian population.
近年来，基因组学领域取得了进展，全外显子组测序已成功应用于几种遗传性皮肤病的快速、有效的诊断策略。本研究旨在探讨分子研究在印度营养不良性大疱性表皮松解症（DEB）中的潜力。使用来自每个大疱性表皮松解症病例的基因组 DNA 进行全外显子组测序，随后进行大规模平行测序。生成的读取映射到人类参考基因组 hg19。随后的 Sanger 测序证实了潜在的致病性突变。对来自 17 个无关印度家庭的 18 名 DEB 患者进行全外显子组测序，发现 COL7A1 基因中有 20 个不同的序列变异，包括 2 个广泛流行的突变。7 名患者表现为显性遗传，而 11 名患者表现为高度可变的隐性 DEB。这项使用外显子组测序的初步研究显然令人鼓舞，将为未来在印度人群中积极识别和理解 DEB 的大规模分子研究奠定基础。
