Abstract
BACKGROUND: Tuberous sclerosis complex (TSC) is an autosomal dominant disorder with a variety of clinical findings. Variants in the TSC complex subunit 1 gene (TSC1) or the TSC complex subunit 2 gene (TSC2) are responsible for TSC. METHODS: Physical examinations, computed tomography scans, and light microscopy analyses were performed on the TSC patient from a Han-Chinese pedigree. Whole-exome sequencing combined with Sanger sequencing were performed on the family members. RESULTS: The TSC patient showed typical clinical features, including facial angiofibromas, gingival fibromas, a shagreen patch, hypomelanotic macules, ungual fibromas, subependymal nodules, multiple pulmonary cysts, and renal hamartomas. A de novo heterozygous c.5146delG (p.Ala1716Profs*110) variant in the TSC2 gene was identified in the TSC patient of the Han-Chinese family. To our knowledge, this is the first report of the TSC2 c.5146delG variant associated with TSC. CONCLUSION: The study expanding the disease-causing variant spectrum, suggests that whole-exome sequencing combined with Sanger sequencing may be a method for TSC diagnosis and differential diagnosis, and may facilitate the development of genetic counseling and targeted gene therapy for this disease.