1. Whole exome sequencing in a sample of Peruvian patients diagnosed with epidermolysis bullosa.
- Author
-
Zevallos-Morales A, Iberico RT, Obispo D, Danos P, Sanchez RM, Fujita R, and Guevara-Fujita ML
- Subjects
- Humans, Child, Exome Sequencing, Peru, Epidermolysis Bullosa complications, Epidermolysis Bullosa, Junctional complications, Epidermolysis Bullosa, Junctional genetics, Epidermolysis Bullosa, Junctional pathology, Epidermolysis Bullosa Dystrophica complications, Epidermolysis Bullosa Dystrophica pathology
- Abstract
Background: 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., Methods: 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., Results: 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%)., Conclusion: We were able to confirm and identify pathological mutations in 34 of 35 patients.
- Published
- 2022
- Full Text
- View/download PDF