Camurati-Engelmann disease

Abstract

Introduction: Camurati-Engelmann disease is an autosomal dominant sclerosing bone dysplasia, estimated at 1:1,000,000 people, with approximately 300 cases reported worldwide. Mutations in TGFB1 gene have been associated with the development of the disease. The objective is to describe clinically and molecularly a Colombian infant with this disease. Clinical case: 22-month-old female patient, daughter of the first pregnancy of non-consanguineous parents, with no family history of diseases. The clinical picture consisted of limb weakness, signs of compromise of the osteo-arthroneuromuscular system, hence, bone dysplasia was suspected. Molecular study by complete exome sequencing and genomic-bioinformatics study, using in-silico technology, was performed. A missense mutation (c.466C> T; p.Arg156Cys) was found in the TGFB1 gene; by bioinformatics, it was determined that this genetic variant had pathogenic clinical significance. Conclusion: This case provides data from the Camurati-Engelmann disease, highlighting the importance of genomic and bioinformatics techniques for its diagnosis.