Genotype-phenotype correlation of renal lesions in the tuberous sclerosis complex

Abstract

Tuberous sclerosis: type of mutation affects disease presentation The ways in which a rare genetic disorder called tuberous sclerosis complex presents depends on the type of genetic mutation involved. Tuberous sclerosis is characterized by non-cancerous growths that form in many parts of the body. Yoshinari Muto and colleagues from Fujita Health University in Toyoake, Japan, sequenced the two genes linked to most cases of the disease, using blood samples from 30 patients. People with mutations that created a premature stop signal during protein synthesis were more likely to develop growths in the brain, skin, and kidney compared to people with mutations involving just one amino acid in a protein sequence. Patients with early stop–type genetic defects tended to exhibit symptoms at a younger age and have more kidney growths. The findings suggest that genetic diagnoses could help predict disease severity and guide clinical decision-making.