An overview of the genetic basis of Epidermolysis Bullosa in Brazil: discovery of novel and recurrent disease-causing variants.

Authors:
Luiza Monteavaro Mariath
Luiza Monteavaro Mariath
Postgraduate Program in Genetics and Molecular Biology
Jeanine Aparecida Frantz
Jeanine Aparecida Frantz
Santo Antonio Hospital
Porto | Portugal
Lavinia Schuler-Faccini
Lavinia Schuler-Faccini
Clinical Pharmacology and Toxicology Unit
Israel

Clin Genet 2019 Apr 19. Epub 2019 Apr 19.

Postgraduate Program in Genetics and Molecular Biology, Department of Genetics, Biosciences Institute, Universidade Federal do Rio Grande do Sul, Brazil.

Epidermolysis Bullosa (EB) is a genodermatosis that encompasses a group of clinically and genetically heterogeneous disorders classified in four major types: EB simplex (EBS), junctional EB (JEB), dystrophic EB (DEB) and Kindler syndrome. Our aim was to characterize recurrent and novel mutations associated to EB in a sample of Brazilian patients. Eighty-seven patients (25 EBS, 4 JEB and 58 DEB) were studied. We performed a next-generation sequencing-based multi-gene panel through Ion Torrent technology including 11 genes: KRT5, KRT14, PLEC, TGM5, LAMA3, LAMB3, LAMC2, COL17A1, ITGB4, COL7A1, and FERMT1. A total of 72 different pathogenic or likely pathogenic variants were identified, 32 of them are novel. The causal variant was detected in 82 patients (efficiency of 94.3%). Pathogenic variants in the residue 125 of KRT14 were identified in 32% of all EBS patients. In DEB patients, four COL7A1 variants were quite frequent, some of them clustered in specific Brazilian regions. Our study extends the spectrum of known mutations in Epidermolysis Bullosa and describes, for the first time, the genetic profile of EB patients from Brazil.

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Source
http://dx.doi.org/10.1111/cge.13555DOI Listing
April 2019

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