Zevallos-Morales Alejandro, Iberico Rosario Torres, Obispo Daisy, Danos Pierina, Sanchez Rodrigo M, Fujita Ricardo, Guevara-Fujita Maria L
Centro de Genetica y Biologia Molecular, Facultad de Medicina Humana, Universidad de San Martin de Porres. Lima, Peru.
Dermatol Online J. 2022 Oct 15;28(5). doi: 10.5070/D328559240.
Epidermolysis bullosa (EB) is a complex and heterogeneous dermatological disease. Four main types of EB have been described, each of them with distinct characteristics: EB simplex (EBS), dystrophic EB (DEB), junctional EB (JEB) and Kindler EB (KEB). Each main type varies in its manifestations, severity, and genetic abnormality.
We sought mutations in 19 genes known to cause EB and 10 genes associated with other dermatologic diseases in 35 Peruvian pediatric patients of a rich Amerindian genetic background. Whole exome sequencing and bioinformatics analysis was performed.
Thirty-four of 35 families revealed an EB mutation. Dystrophic EB was the most frequently diagnosed type, with 19 (56%) patients, followed by EBS (35%), JEB (6%), and KEB (3%). We found 37 mutations in seven genes; 27 (73%) were missense mutations; 22 (59%) were novel mutations. Five cases changed their initial diagnosis of EBS. Four were reclassified as DEB and one as JEB. Inspection into other non-EB genes revealed a variant, c.7130C>A, in the gene FLGR2, which was present in 31 of the 34 patients (91%).
We were able to confirm and identify pathological mutations in 34 of 35 patients.
大疱性表皮松解症（EB）是一种复杂的异质性皮肤病。已描述了四种主要类型的EB，每种类型都有独特的特征：单纯性EB（EBS）、营养不良性EB（DEB）、交界性EB（JEB）和Kindler EB（KEB）。每种主要类型在临床表现、严重程度和基因异常方面各不相同。
我们在35名具有丰富美洲印第安人遗传背景的秘鲁儿科患者中，寻找已知会导致EB的19个基因以及与其他皮肤病相关的10个基因中的突变。进行了全外显子组测序和生物信息学分析。
35个家庭中的34个发现了EB突变。营养不良性EB是最常被诊断出的类型，有19名（56%）患者，其次是EBS（35%）、JEB（6%）和KEB（3%）。我们在7个基因中发现了37个突变；27个（73%）是错义突变；22个（59%）是新突变。5例患者改变了最初的EBS诊断。4例被重新分类为DEB，1例被重新分类为JEB。对其他非EB基因的检测发现，34名患者中有31名（91%）存在FLGR2基因中的一个变体，即c.7130C>A。
我们能够在35名患者中的34名中确认并鉴定出病理性突变。
